{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:54:30Z","timestamp":1790823270567,"version":"4.1.0"},"reference-count":571,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:00:00Z","timestamp":1668643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Expanded tandem repeat DNAs are associated with various unusual chromosomal lesions, despiralizations, multi-branched inter-chromosomal associations, and fragile sites. Fragile sites cytogenetically manifest as localized gaps or discontinuities in chromosome structure and are an important genetic, biological, and health-related phenomena. Common fragile sites (\u223c230), present in most individuals, are induced by aphidicolin and can be associated with cancer; of the 27 molecularly-mapped common sites, none are associated with a particular DNA sequence motif. Rare fragile sites (<jats:inline-formula><mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"m1\"><mml:mrow><mml:mo>\u2273<\/mml:mo><\/mml:mrow><\/mml:math><\/jats:inline-formula> 40 known), <jats:inline-formula><mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"m2\"><mml:mrow><mml:mo>\u2264<\/mml:mo><\/mml:mrow><\/mml:math><\/jats:inline-formula> 5% of the population (may be as few as a single individual), can be associated with neurodevelopmental disease. All 10 molecularly-mapped folate-sensitive fragile sites, the largest category of rare fragile sites, are caused by gene-specific CGG\/CCG tandem repeat expansions that are aberrantly CpG methylated and include FRAXA, FRAXE, FRAXF, FRA2A, FRA7A, FRA10A, FRA11A, FRA11B, FRA12A, and FRA16A. The minisatellite-associated rare fragile sites, FRA10B, FRA16B, can be induced by AT-rich DNA-ligands or nucleotide analogs. Despiralized lesions and multi-branched inter-chromosomal associations at the heterochromatic satellite repeats of chromosomes 1, 9, 16 are inducible by de-methylating agents like 5-azadeoxycytidine and can spontaneously arise in patients with ICF syndrome (<jats:italic>I<\/jats:italic>mmunodeficiency <jats:italic>C<\/jats:italic>entromeric instability and <jats:italic>F<\/jats:italic>acial anomalies) with mutations in genes regulating DNA methylation. ICF individuals have hypomethylated satellites I-III, alpha-satellites, and subtelomeric repeats. Ribosomal repeats and subtelomeric D4Z4 megasatellites\/macrosatellites, are associated with chromosome location, fragility, and disease. Telomere repeats can also assume fragile sites. Dietary deficiencies of folate or vitamin B12, or drug insults are associated with megaloblastic and\/or pernicious anemia, that display chromosomes with fragile sites. The recent discovery of many new tandem repeat expansion loci, with varied repeat motifs, where motif lengths can range from mono-nucleotides to megabase units, could be the molecular cause of new fragile sites, or other chromosomal lesions. This review focuses on repeat-associated fragility, covering their induction, cytogenetics, epigenetics, cell type specificity, genetic instability (repeat instability, micronuclei, deletions\/rearrangements, and sister chromatid exchange), unusual heritability, disease association, and penetrance. Understanding tandem repeat-associated chromosomal fragile sites provides insight to chromosome structure, genome packaging, genetic instability, and disease.<\/jats:p>","DOI":"10.3389\/fgene.2022.985975","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T12:32:11Z","timestamp":1668688331000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":30,"title":["Fragile sites, chromosomal lesions, tandem repeats, and disease"],"prefix":"10.3389","volume":"13","author":[{"given":"Mila","family":"Mirceta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Shum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika H. M.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher E.","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"682397","DOI":"10.3389\/fimmu.2021.682397","article-title":"The causes and consequences of spatial organization of the genome in regulation of gene expression","volume":"12","author":"Agelopoulos","year":"2021","journal-title":"Front. Immunol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1101\/gr.206706.116","article-title":"Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles","volume":"26","author":"Aldrup-MacDonald","year":"2016","journal-title":"Genome Res."},{"key":"B3","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1002\/(sici)1096-8628(19990402)83:4<322::aid-ajmg17>3.0.co;2-b","article-title":"Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study-preliminary data","volume":"83","author":"Allingham-Hawkins","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"e1003628","DOI":"10.1371\/journal.pcbi.1003628","article-title":"Genomic characterization of large heterochromatic gaps in the human genome assembly","volume":"10","author":"Altemose","year":"2014","journal-title":"PLoS Comput. Biol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"eabl4178","DOI":"10.1126\/science.abl4178","article-title":"Complete genomic and epigenetic maps of human centromeres","volume":"376","author":"Altemose","year":"2022","journal-title":"Science"},{"key":"B6","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.semcdb.2022.04.012","article-title":"A classical revival: Human satellite DNAs enter the genomics era","volume":"128","author":"Altemose","year":"2022","journal-title":"Semin. Cell Dev. Biol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1007\/BF00273829","article-title":"A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome","volume":"75","author":"Amarose","year":"1987","journal-title":"Hum. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1016\/0020-711x(88)90248-0","article-title":"Compartmentation of purine and pyrimidine nucleotides in animal cells","volume":"20","author":"Andersson","year":"1988","journal-title":"Int. J. Biochem."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1242","DOI":"10.1016\/s0140-6736(85)90767-6","article-title":"Rett syndrome and fragile site in Xp22","volume":"2","author":"Archidiacono","year":"1985","journal-title":"Lancet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1016\/j.dnarep.2010.03.005","article-title":"Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites","volume":"9","author":"Arlt","year":"2010","journal-title":"DNA Repair (Amst)"},{"key":"B11","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1002\/gcc.10000","article-title":"Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells","volume":"33","author":"Arlt","year":"2002","journal-title":"Genes Chromosom. Cancer"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.dnarep.2006.05.010","article-title":"Common fragile sites as targets for chromosome rearrangements","volume":"5","author":"Arlt","year":"2006","journal-title":"DNA Repair (Amst)"},{"key":"B13","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1002\/ajmg.b.20030","article-title":"Clinical features of boys with fragile X premutations and intermediate alleles","author":"Aziz","year":"2003","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1016\/j.molcel.2009.05.022","article-title":"Highly transcribed RNA polymerase II genes are impediments to replication fork progression in Saccharomyces cerevisiae","volume":"34","author":"Azvolinsky","year":"2009","journal-title":"Mol. Cell"},{"key":"B15","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1002\/ajmg.a.10006","article-title":"45, X\/46, XY mosaicism and fragile X syndrome","author":"Banes","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"B16","doi-asserted-by":"publisher","first-page":"750629","DOI":"10.3389\/fnagi.2022.750629","article-title":"Genetic and epigenetic interplay define disease onset and severity in repeat diseases","volume":"14","author":"Barb\u00e9","year":"2022","journal-title":"Front. Aging Neurosci."},{"key":"B17","first-page":"111","article-title":"Segregation analysis of autosomal fragile sites in three families with the fragile X chromosome","volume":"34","author":"Barletta","year":"1991","journal-title":"Ann. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1016\/j.cell.2013.01.006","article-title":"Identification of early replicating fragile sites that contribute to genome instability","volume":"152","author":"Barlow","year":"2013","journal-title":"Cell"},{"key":"B19","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.jmb.2014.08.022","article-title":"Breaking up is hard to do\u201d: the formation and resolution of sister chromatid intertwines","volume":"427","author":"Baxter","year":"2015","journal-title":"J. Mol. Biol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.tig.2012.03.011","article-title":"Replication timing and its emergence from stochastic processes","volume":"28","author":"Bechhoefer","year":"2012","journal-title":"Trends Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/j.mrfmmm.2005.05.012","article-title":"Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei","volume":"578","author":"Beetstra","year":"2005","journal-title":"Mutat. Res."},{"key":"B22","doi-asserted-by":"publisher","first-page":"3111","DOI":"10.3390\/nu13093111","article-title":"Early life nutrition and mental health: The role of DNA methylation","volume":"13","author":"Bekdash","year":"2021","journal-title":"Nutrients"},{"key":"B23","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1016\/0092-8674(91)90514-y","article-title":"Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome","volume":"64","author":"Bell","year":"1991","journal-title":"Cell"},{"key":"B24","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1111\/j.1469-1809.1941.tb02290.x","article-title":"On the age of onset and age at death in hereditary muscular dystrophy with some observations bearing on the question of antedating","volume":"11","author":"Bell","year":"1941","journal-title":"Ann. Eugen."},{"key":"B25","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1056\/NEJMc1515180","article-title":"Drug-induced megaloblastic anemia","volume":"374","author":"Ben Salem","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"B26","doi-asserted-by":"publisher","first-page":"4505","DOI":"10.1021\/acs.jproteome.6b00622","article-title":"Role of DNA repair factor xeroderma pigmentosum protein group C in response to replication stress as revealed by DNA fragile site affinity chromatography and quantitative proteomics","volume":"15","author":"Beresova","year":"2016","journal-title":"J. Proteome Res."},{"key":"B27","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1016\/s0140-6736(69)91627-4","article-title":"A homozygous chromosomal variant","volume":"1","author":"Berg","year":"1969","journal-title":"Lancet"},{"key":"B28","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1097\/00019605-200009030-00012","article-title":"Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A","volume":"9","author":"Berg","year":"2000","journal-title":"Clin. Dysmorphol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1083\/jcb.201207066","article-title":"DNA synthesis by Pol \u03b7 promotes fragile site stability by preventing under-replicated DNA in mitosis","volume":"201","author":"Bergoglio","year":"2013","journal-title":"J. Cell Biol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"1913","DOI":"10.1016\/j.celrep.2015.02.046","article-title":"The 3D organization of chromatin explains evolutionary fragile genomic regions","volume":"10","author":"Berthelot","year":"2015","journal-title":"Cell Rep."},{"key":"B31","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/j.cell.2011.03.044","article-title":"Nucleotide deficiency promotes genomic instability in early stages of cancer development","volume":"145","author":"Bester","year":"2011","journal-title":"Cell"},{"key":"B32","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1111\/j.1469-1809.1985.tb01704.x","article-title":"Absence of significant autosomal lesions in Huntington\u2019s disease","volume":"49","author":"Beverstock","year":"1985","journal-title":"Ann. Hum. Genet."},{"key":"B33","doi-asserted-by":"publisher","first-page":"2328","DOI":"10.1093\/nar\/gks1442","article-title":"Rev3, the catalytic subunit of Pol\u03b6, is required for maintaining fragile site stability in human cells","volume":"41","author":"Bhat","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1016\/j.molcel.2016.10.037","article-title":"RAD52 facilitates mitotic DNA synthesis following replication stress","volume":"64","author":"Bhowmick","year":"2016","journal-title":"Mol. Cell"},{"key":"B35","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1038\/nature08768","article-title":"Signatures of mutation and selection in the cancer genome","volume":"463","author":"Bignell","year":"2010","journal-title":"Nature"},{"key":"B36","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/1741-7007-8-6","article-title":"Mild folate deficiency induces genetic and epigenetic instability and phenotype changes in prostate cancer cells","volume":"8","author":"Bistulfi","year":"2010","journal-title":"BMC Biol."},{"key":"B37","doi-asserted-by":"publisher","first-page":"13003","DOI":"10.1073\/pnas.1808377115","article-title":"Folate deficiency drives mitotic missegregation of the human FRAXA locus","volume":"115","author":"Bjerregaard","year":"2018","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B38","doi-asserted-by":"publisher","first-page":"E615","DOI":"10.3390\/genes9120615","article-title":"Repetitive fragile sites: Centromere satellite DNA as a source of genome instability in human diseases","volume":"9","author":"Black","year":"2018","journal-title":"Genes (Basel)"},{"key":"B39","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/s0950-3536(05)80216-1","article-title":"DNA damage in folate deficiency","volume":"8","author":"Blount","year":"1995","journal-title":"Baillieres Clin. Haematol."},{"key":"B40","doi-asserted-by":"publisher","first-page":"3290","DOI":"10.1073\/pnas.94.7.3290","article-title":"Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage","volume":"94","author":"Blount","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B41","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1038\/nrm2184","article-title":"The multifunctional nucleolus","volume":"8","author":"Boisvert","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1002\/gcc.2870110403","article-title":"Integrated YAC contig containing the 3p14.2 hereditary renal carcinoma 3;8 translocation breakpoint and the fragile site FRA3B","volume":"11","author":"Boldog","year":"1994","journal-title":"Genes Chromosom. Cancer"},{"key":"B43","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1007\/s00412-012-0377-6","article-title":"A TRF1-controlled common fragile site containing interstitial telomeric sequences","volume":"121","author":"Bosco","year":"2012","journal-title":"Chromosoma"},{"key":"B44","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.cancergencyto.2010.06.008","article-title":"Characterization of FRA7B, a human common fragile site mapped at the 7p chromosome terminal region","volume":"202","author":"Bosco","year":"2010","journal-title":"Cancer Genet. cytogenet."},{"key":"B45","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1038\/262516a0","article-title":"Accessibility of DNA in condensed chromatin to nuclease digestion","volume":"262","author":"Bostock","year":"1976","journal-title":"Nature"},{"key":"B46","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/gcc.2870060206","article-title":"Murine radiation myeloid leukaemogenesis: Relationship between interstitial telomere-like sequences and chromosome 2 fragile sites","volume":"6","author":"Bouffler","year":"1993","journal-title":"Genes Chromosom. Cancer"},{"key":"B47","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/s004390050216","article-title":"Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation","volume":"98","author":"Boutouil","year":"1996","journal-title":"Hum. Genet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"5093","DOI":"10.1093\/nar\/9.19.5093","article-title":"DNA fragments associated with chromosome scaffolds","volume":"9","author":"Bowen","year":"1981","journal-title":"Nucleic Acids Res."},{"key":"B49","doi-asserted-by":"publisher","first-page":"4767","DOI":"10.1016\/j.jmb.2013.09.022","article-title":"The human specialized DNA polymerases and non-B DNA: Vital relationships to preserve genome integrity","volume":"425","author":"Boyer","year":"2013","journal-title":"J. Mol. Biol."},{"key":"B50","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1042\/bst0051184","article-title":"Deoxyribonucleic acid synthesis during early embryogenesis","volume":"5","author":"Brachet","year":"1977","journal-title":"Biochem. Soc. Trans."},{"key":"B51","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/0002-9343(84)90349-8","article-title":"Folate metabolism and chromosomal stability in the fragile X syndrome","volume":"77","author":"Branda","year":"1984","journal-title":"Am. J. Med."},{"key":"B52","doi-asserted-by":"publisher","first-page":"3040","DOI":"10.1080\/15384101.2015.1078039","article-title":"Sister chromatid decatenation: Bridging the gaps in our knowledge","volume":"14","author":"Broderick","year":"2015","journal-title":"Cell Cycle"},{"key":"B53","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/s0140-6736(82)90231-8","article-title":"Association of fragile X syndrome with autism","volume":"1","author":"Brown","year":"1982","journal-title":"Lancet"},{"key":"B54","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1101\/gr.174052.114","article-title":"High resolution mapping of modified DNA nucleobases using excision repair enzymes","volume":"24","author":"Bryan","year":"2014","journal-title":"Genome Res."},{"key":"B55","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1002\/ajmg.1320190111","article-title":"The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?","volume":"19","author":"B\u00fchler","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1471-2164-10-59","article-title":"Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites","volume":"10","author":"Burrow","year":"2009","journal-title":"BMC Genomics"},{"key":"B57","doi-asserted-by":"publisher","first-page":"2865","DOI":"10.1093\/nar\/gkp1245","article-title":"Secondary structure formation and DNA instability at fragile site FRA16B","volume":"38","author":"Burrow","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"B58","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/0165-4608(91)90028-s","article-title":"Synergism between aphidicolin and adenoviruses in the induction of breaks at fragile sites on human chromosomes","volume":"54","author":"Caporossi","year":"1991","journal-title":"Cancer Genet. cytogenet."},{"key":"B59","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/s0092-8674(02)01113-3","article-title":"ATR regulates fragile site stability","volume":"111","author":"Casper","year":"2002","journal-title":"Cell"},{"key":"B60","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1086\/422701","article-title":"Chromosomal instability at common fragile sites in Seckel syndrome","volume":"75","author":"Casper","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"B61","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1002\/ajmg.a.33515","article-title":"FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother","author":"Cavani","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"B62","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.semcdb.2022.04.022","article-title":"Satellite DNAs and human sex chromosome variation","volume":"128","author":"Cechova","year":"2022","journal-title":"Semin. Cell Dev. Biol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"48","DOI":"10.3390\/genes12010048","article-title":"Probably correct: Rescuing repeats with short and long reads","volume":"12","author":"Cechova","year":"2020","journal-title":"Genes (Basel)"},{"key":"B64","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1038\/ng1238","article-title":"Mutations in NHLRC1 cause progressive myoclonus epilepsy","volume":"35","author":"Chan","year":"2003","journal-title":"Nat. Genet."},{"key":"B65","doi-asserted-by":"publisher","first-page":"3397","DOI":"10.1038\/sj.emboj.7601777","article-title":"BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges","volume":"26","author":"Chan","year":"2007","journal-title":"EMBO J."},{"key":"B66","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1038\/ncb1882","article-title":"Replication stress induces sister-chromatid bridging at fragile site loci in mitosis","volume":"11","author":"Chan","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"B67","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1159\/000130646","article-title":"Mapping of genes and adenovirus-12-induced gaps using chimpanzee-mouse somatic cell hybrids","volume":"12","author":"Chen","year":"1976","journal-title":"Cytogenet. Cell Genet."},{"key":"B68","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1080\/07391102.1985.10506318","article-title":"The flexibility of alternating dA-dT sequences","volume":"2","author":"Chen","year":"1985","journal-title":"J. Biomol. Struct. Dyn."},{"key":"B69","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1007\/s004390050894","article-title":"Chromosomal fragile site expression in lymphocytes from patients with schizophrenia","volume":"103","author":"Chen","year":"1998","journal-title":"Hum. Genet."},{"key":"B70","doi-asserted-by":"publisher","first-page":"8568","DOI":"10.1021\/bi00084a025","article-title":"DNA polymerase epsilon: Aphidicolin inhibition and the relationship between polymerase and exonuclease activity","volume":"32","author":"Cheng","year":"1993","journal-title":"Biochemistry"},{"key":"B71","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1159\/000132731","article-title":"Visualization of NORs in relation to the precise chromosomal localization of ribosomal RNA genes","volume":"50","author":"Cheung","year":"1989","journal-title":"Cytogenet. Cell Genet."},{"key":"B72","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1097\/00043426-199605000-00014","article-title":"Pancytopenia with chromosomal fragility: Vitamin B12 deficiency","volume":"18","author":"Chintagumpala","year":"1996","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"B73","doi-asserted-by":"publisher","first-page":"5483","DOI":"10.1038\/sj.onc.1205699","article-title":"5-Azacytidine and 5-aza-2\u2019-deoxycytidine as inhibitors of DNA methylation: Mechanistic studies and their implications for cancer therapy","volume":"21","author":"Christman","year":"2002","journal-title":"Oncogene"},{"key":"B74","doi-asserted-by":"publisher","first-page":"5190","DOI":"10.1093\/nar\/gkw170","article-title":"Oxidized dNTPs and the OGG1 and MUTYH DNA glycosylases combine to induce CAG\/CTG repeat instability","volume":"44","author":"Cilli","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"B75","doi-asserted-by":"publisher","first-page":"bcr2016218689","DOI":"10.1136\/bcr-2016-218689","article-title":"Reversal of isolated 20q deletion with vitamin B12 replacement in a patient with pernicious anaemia","volume":"2017","author":"Cingam","year":"2017","journal-title":"BMJ Case Rep."},{"key":"B76","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/8807","article-title":"Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells","volume":"22","author":"Coffee","year":"1999","journal-title":"Nat. Genet."},{"key":"B77","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1086\/342931","article-title":"Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome","volume":"71","author":"Coffee","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"B78","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1002\/ajmg.a.32261","article-title":"Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature","author":"Coffee","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"B79","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/s1097-2765(00)80137-9","article-title":"A new role for hypoxia in tumor progression: Induction of fragile site triggering genomic rearrangements and Formation of complex DMs and HSRs","volume":"2","author":"Coquelle","year":"1998","journal-title":"Mol. Cell"},{"key":"B80","first-page":"3477","article-title":"Identification of unstable sequences within the common fragile site at 3p14.2: Implications for the mechanism of deletions within fragile histidine triad gene\/common fragile site at 3p14.2 in tumors","volume":"62","author":"Corbin","year":"2002","journal-title":"Cancer Res."},{"key":"B81","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1159\/000208946","article-title":"Presence of a satellite DNA in normal and leukemic human tissues","volume":"39","author":"Corneo","year":"1968","journal-title":"Acta Haematol."},{"key":"B82","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/0022-2836(70)90163-4","article-title":"Repeated sequences in human DNA","volume":"48","author":"Corneo","year":"1970","journal-title":"J. Mol. Biol."},{"key":"B83","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/0005-2787(72)90427-3","article-title":"Elution of human satellite DNAs on a methylated albumin kieselguhr chromatographic column: Isolation of satellite DNA. IV","volume":"269","author":"Corneo","year":"1972","journal-title":"Biochim. Biophys. Acta"},{"key":"B84","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1126\/science.174.4010.702","article-title":"Polymorphism of human constitutive heterochromatin","volume":"174","author":"Craig-Holmes","year":"1971","journal-title":"Science"},{"key":"B85","first-page":"181","article-title":"Polymorphism of human C-band heterochromatin. I. Frequency of variants","volume":"25","author":"Craig-Holmes","year":"1973","journal-title":"Am. J. Hum. Genet."},{"key":"B86","first-page":"178","article-title":"Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over","volume":"27","author":"Craig-Holmes","year":"1975","journal-title":"Am. J. Hum. Genet."},{"key":"B87","first-page":"193","article-title":"Variations in the presence of a fragile site on X-fra(X)-according to cases and methods used","volume":"32","author":"Crippa","year":"1984","journal-title":"J. Genet. Hum."},{"key":"B88","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1002\/ajmg.1320550202","article-title":"New heritable fragile site with spontaneous expression at 1q41","volume":"55","author":"Dar","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B89","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/978-1-4613-2449-2_7","article-title":"Effects of altered nucleotide concentrations on the fidelity of DNA replication","volume":"31","author":"Das","year":"1985","journal-title":"Basic Life Sci."},{"key":"B90","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1159\/000206040","article-title":"Cytogenetics in nutritional megaloblastic anaemia: Prolonged persistence of chromosomal abnormalities in lymphocytes after remission","volume":"76","author":"Das","year":"1986","journal-title":"Acta Haematol."},{"key":"B91","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1159\/000086179","article-title":"Megaloblastosis: From morphos to molecules","volume":"14","author":"Das","year":"2005","journal-title":"Med. Princ. Pract."},{"key":"B92","doi-asserted-by":"publisher","first-page":"1886","DOI":"10.1101\/gr.195305.115","article-title":"Replication timing is regulated by the number of MCMs loaded at origins","volume":"25","author":"Das","year":"2015","journal-title":"Genome Res."},{"key":"B93","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0165-4608(92)90223-u","article-title":"Chromatin structure, DNA methylation, and gene expression at sites of viral integration in human fibroblasts. Implications for chromosomal fragility","volume":"60","author":"De Ambrosis","year":"1992","journal-title":"Cancer Genet. cytogenet."},{"key":"B94","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1002\/ajmg.a.30093","article-title":"Prenatal diagnosis of FRA10A: A case report and literature review","volume":"136","author":"De Leon-Luis","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"B95","doi-asserted-by":"publisher","first-page":"e1000266","DOI":"10.1371\/journal.pgen.1000266","article-title":"A role for oxidized DNA precursors in Huntington\u2019s disease-like striatal neurodegeneration","volume":"4","author":"De Luca","year":"2008","journal-title":"PLoS Genet."},{"key":"B96","doi-asserted-by":"publisher","first-page":"R150","DOI":"10.1093\/hmg\/ddm136","article-title":"Fragile sites and human disease","volume":"16","author":"Debacker","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"B97","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1159\/000109612","article-title":"The molecular basis of the folate-sensitive fragile site FRA11A at 11q13","volume":"119","author":"Debacker","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"B98","first-page":"740","article-title":"Persisting clone of cells with an abnormal chromosome in a woman previously irradiated","volume":"6","author":"Dekaban","year":"1965","journal-title":"J. Nucl. Med."},{"key":"B99","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1134\/s1022795406070179","article-title":"Chromosomal fragile sites in schizophrenic patients","volume":"42","author":"Demirhan","year":"2006","journal-title":"Russ. J. Genet."},{"key":"B100","doi-asserted-by":"publisher","first-page":"137","DOI":"10.3349\/ymj.2009.50.1.137","article-title":"The expression of folate sensitive fragile sites in patients with bipolar disorder","volume":"50","author":"Demirhan","year":"2009","journal-title":"Yonsei Med. J."},{"key":"B101","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1159\/000073411","article-title":"How common are common fragile sites in humans: Interindividual variation in the distribution of aphidicolin-induced fragile sites","volume":"101","author":"Denison","year":"2003","journal-title":"Cytogenet. Genome Res."},{"key":"B102","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1016\/j.ajhg.2021.03.011","article-title":"30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?","volume":"108","author":"Depienne","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"B103","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1002\/ajmg.1320430134","article-title":"Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development","volume":"43","author":"Devys","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"B104","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1006\/excr.1998.3934","article-title":"Evidence against a looped structure of the inactive human X-chromosome territory","volume":"240","author":"Dietzel","year":"1998","journal-title":"Exp. Cell Res."},{"key":"B105","doi-asserted-by":"publisher","first-page":"326","DOI":"10.2174\/138920210791616699","article-title":"DNA instability at chromosomal fragile sites in cancer","volume":"11","author":"Dillon","year":"2010","journal-title":"Curr. Genomics"},{"key":"B106","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1093\/hmg\/dds561","article-title":"Role of DNA secondary structures in fragile site breakage along human chromosome 10","volume":"22","author":"Dillon","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"B107","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1007\/BF00273080","article-title":"Folic acid sensitive fragile sites are not limited to the human karyotype. Demonstration of nonrandom gaps and breaks in the Persian vole Ellobius lutescens Th. inducible by methotrexate, fluorodeoxyuridine, and aphidicolin","volume":"70","author":"Djalali","year":"1985","journal-title":"Hum. Genet."},{"key":"B108","doi-asserted-by":"publisher","first-page":"2152","DOI":"10.1002\/ajmg.a.33011","article-title":"Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss","author":"Dobkin","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"B109","doi-asserted-by":"publisher","first-page":"3241","DOI":"10.1002\/j.1460-2075.1985.tb04072.x","article-title":"Inhibition of DNA synthesis by aphidicolin induces supercoiling in simian virus 40 replicative intermediates","volume":"4","author":"Dr\u00f6ge","year":"1985","journal-title":"EMBO J."},{"key":"B110","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/0165-7992(86)90036-9","article-title":"Enhanced sensitivity of lymphoblastoid cells from individuals carrying the mutation for the fragile X syndrome to the clastogenic effects of FUdR","volume":"173","author":"Duncan","year":"1986","journal-title":"Mutat. Res."},{"key":"B111","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1073\/pnas.0708097105","article-title":"Replication stress induces tumor-like microdeletions in FHIT\/FRA3B","volume":"105","author":"Durkin","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B112","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.1096\/fasebj.12.14.1491","article-title":"DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro","volume":"12","author":"Duthie","year":"1998","journal-title":"FASEB J."},{"key":"B113","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1093\/carcin\/18.9.1709","article-title":"Uracil misincorporation in human DNA detected using single cell gel electrophoresis","volume":"18","author":"Duthie","year":"1997","journal-title":"Carcinogenesis"},{"key":"B114","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1007\/BF02369435","article-title":"Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus","volume":"22","author":"Eberhart","year":"1996","journal-title":"Somat. Cell Mol. Genet."},{"key":"B115","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1038\/s41588-022-01043-w","article-title":"Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes","volume":"54","author":"Ebler","year":"2022","journal-title":"Nat. Genet."},{"key":"B116","doi-asserted-by":"publisher","first-page":"18069","DOI":"10.1073\/pnas.0506497102","article-title":"Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites","volume":"102","author":"El Achkar","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B117","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1007\/BF00295030","article-title":"Rodent common fragile sites: Are they conserved? Evidence from mouse and rat","volume":"97","author":"Elder","year":"1989","journal-title":"Chromosoma"},{"key":"B118","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/jnci\/80.7.525","article-title":"Association of marginal folate depletion with increased human chromosomal damage in vivo: Demonstration by analysis of micronucleated erythrocytes","volume":"80","author":"Everson","year":"1988","journal-title":"J. Natl. Cancer Inst."},{"key":"B119","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/gcc.20389","article-title":"Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions","volume":"46","author":"Fechter","year":"2007","journal-title":"Genes Chromosom. Cancer"},{"key":"B120","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/BF00286707","article-title":"Increased frequencies of sister chromatid exchanges at common fragile sites (1)(q42) and (19)(q13)","volume":"83","author":"Feichtinger","year":"1989","journal-title":"Hum. Genet."},{"key":"B121","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1159\/000072841","article-title":"The rare human fragile site 16B","volume":"100","author":"Felbor","year":"2003","journal-title":"Cytogenet. Genome Res."},{"key":"B122","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/s0027-5107(02)00086-6","article-title":"Micronuclei, nucleoplasmic bridges and nuclear buds induced in folic acid deficient human lymphocytes-evidence for breakage-fusion-bridge cycles in the cytokinesis-block micronucleus assay","volume":"504","author":"Fenech","year":"2002","journal-title":"Mutat. Res."},{"key":"B123","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/s0027-5107(01)00079-3","article-title":"The role of folic acid and Vitamin B12 in genomic stability of human cells","volume":"475","author":"Fenech","year":"2001","journal-title":"Mutat. Res."},{"key":"B124","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1038\/nprot.2007.77","article-title":"Cytokinesis-block micronucleus cytome assay","volume":"2","author":"Fenech","year":"2007","journal-title":"Nat. Protoc."},{"key":"B125","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1007\/978-981-10-6955-0_21","article-title":"Fragility extraordinaire: Unsolved mysteries of chromosome fragile sites","volume":"1042","author":"Feng","year":"2017","journal-title":"Adv. Exp. Med. Biol."},{"key":"B126","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1016\/s0140-6736(61)91655-5","article-title":"Observations on the satellited human chromosomes","volume":"1","author":"Ferguson-Smith","year":"1961","journal-title":"Lancet"},{"key":"B127","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/0014-4827(77)90109-4","article-title":"Secondary constrictions and nucleolus organizer regions in man","volume":"104","author":"Ferraro","year":"1977","journal-title":"Exp. Cell Res."},{"key":"B128","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1186\/s13039-016-0280-6","article-title":"First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease","volume":"9","author":"Filipovi\u0107","year":"2016","journal-title":"Mol. Cytogenet."},{"key":"B129","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1002\/ajmg.1320300108","article-title":"Fragile-X mutation and klinefelter syndrome: A reappraisal","volume":"30","author":"Filippi","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"B130","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1093\/hmg\/ddi144","article-title":"Common chromosomal fragile site FRA16D mutation in cancer cells","volume":"14","author":"Finnis","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"B131","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/s0306-9877(98)90080-9","article-title":"Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism","volume":"51","author":"Fischer","year":"1998","journal-title":"Med. Hypotheses"},{"key":"B132","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1136\/jmg.21.5.373","article-title":"Deleted X chromosomes in patients with the fragile X syndrome","volume":"21","author":"Fitchett","year":"1984","journal-title":"J. Med. Genet."},{"key":"B133","first-page":"218","article-title":"Bends in human mitotic metaphase chromosomes, including a bend marking the X-inactivation center","volume":"36","author":"Flejter","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"B134","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1093\/hmg\/6.8.1305","article-title":"Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains","volume":"6","author":"Flint","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"B135","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1002\/rmv.368","article-title":"Viral induction of site-specific chromosome damage","volume":"13","author":"Fortunato","year":"2003","journal-title":"Rev. Med. Virol."},{"key":"B136","doi-asserted-by":"publisher","first-page":"3929","DOI":"10.1093\/nar\/15.9.3929","article-title":"Hypervariable lengths of human DNA associated with a human satellite III sequence found in the 3.4kb Y-specific fragment","volume":"15","author":"Fowler","year":"1987","journal-title":"Nucleic Acids Res."},{"key":"B137","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1038\/nrm4002","article-title":"DNA replication origin activation in space and time","volume":"16","author":"Fragkos","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B138","doi-asserted-by":"publisher","first-page":"e0159404","DOI":"10.1371\/journal.pone.0159404","article-title":"Persistence of breakage in specific chromosome bands 6 Years after acute exposure to oil","volume":"11","author":"Franc\u00e9s","year":"2016","journal-title":"PLoS One"},{"key":"B139","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/S0022-2836(59)80038-3","article-title":"The specific mutagenic effect of base analogues on Phage T4","volume":"1","author":"Freese","year":"1959","journal-title":"J. Mol. Biol."},{"key":"B140","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1007\/s00294-018-0806-z","article-title":"R-Loops: Targets for nuclease cleavage and repeat instability","volume":"64","author":"Freudenreich","year":"2018","journal-title":"Curr. Genet."},{"key":"B141","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1093\/nar\/10.2.547","article-title":"Simple repeated sequences in human satellite DNA","volume":"10","author":"Frommer","year":"1982","journal-title":"Nucleic Acids Res."},{"key":"B142","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1007\/BF00303019","article-title":"Replication pattern in XXY cells with fra(X)","volume":"60","author":"Froster-Iskenius","year":"1982","journal-title":"Hum. Genet."},{"key":"B143","doi-asserted-by":"publisher","first-page":"4950","DOI":"10.1073\/pnas.91.11.4950","article-title":"The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure","volume":"91","author":"Fry","year":"1994","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B144","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1002\/ajmg.1320300109","article-title":"The concurrence of Klinefelter syndrome and fragile X syndrome","volume":"30","author":"Fryns","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"B145","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1007\/BF00271181","article-title":"Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency","volume":"57","author":"Fryns","year":"1981","journal-title":"Hum. Genet."},{"key":"B146","first-page":"251","article-title":"XY\/XXY mosaicism and fragile X syndrome","volume":"26","author":"Fryns","year":"1983","journal-title":"Ann. Genet."},{"key":"B147","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1016\/0092-8674(91)90283-5","article-title":"Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the sherman paradox","volume":"67","author":"Fu","year":"1991","journal-title":"Cell"},{"key":"B148","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/BF00291682","article-title":"Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3","volume":"78","author":"Fuster","year":"1988","journal-title":"Hum. Genet."},{"key":"B149","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1101\/gr.269530.120","article-title":"Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences","volume":"32","author":"Gall-Duncan","year":"2022","journal-title":"Genome Res."},{"key":"B150","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1016\/j.ajhg.2020.08.019","article-title":"A survey of rare epigenetic variation in 23, 116 human genomes identifies disease-relevant epivariations and CGG expansions","volume":"107","author":"Garg","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"B151","doi-asserted-by":"publisher","first-page":"6256","DOI":"10.1128\/MCB.15.11.6256","article-title":"The transcriptionally competent U2 gene is necessary and sufficient for adenovirus type 12 induction of the fragile site at 17q21-22","volume":"15","author":"Gargano","year":"1995","journal-title":"Mol. Cell. Biol."},{"key":"B152","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1176\/ajp.149.8.1116a","article-title":"Schizophrenia and chromosomal fragile sites","volume":"149","author":"Garofalo","year":"1992","journal-title":"Am. J. Psychiatry"},{"key":"B153","first-page":"132","article-title":"Evidence of chromosomal fragile sites in schizophrenic patients","volume":"36","author":"Garofalo","year":"1993","journal-title":"Ann. Genet."},{"key":"B154","doi-asserted-by":"publisher","first-page":"16527","DOI":"10.1073\/pnas.1921219117","article-title":"Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells","volume":"117","author":"Garribba","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B155","doi-asserted-by":"publisher","first-page":"695124","DOI":"10.3389\/fgene.2021.695124","article-title":"Folate deficiency triggers the abnormal segregation of a region with large cluster of CG-rich trinucleotide repeats on human chromosome 2","volume":"12","author":"Garribba","year":"2021","journal-title":"Front. Genet."},{"key":"B156","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/ng0596-105","article-title":"Identification of the gene FMR2, associated with FRAXE mental retardation","volume":"13","author":"Gecz","year":"1996","journal-title":"Nat. Genet."},{"key":"B157","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1038\/ng0892-341","article-title":"Fragile X syndrome without CCG amplification has an FMR1 deletion","volume":"1","author":"Gedeon","year":"1992","journal-title":"Nat. Genet."},{"key":"B158","doi-asserted-by":"publisher","first-page":"eabj5089","DOI":"10.1126\/science.abj5089","article-title":"Epigenetic patterns in a complete human genome","volume":"376","author":"Gershman","year":"2022","journal-title":"Science"},{"key":"B159","doi-asserted-by":"publisher","first-page":"5576","DOI":"10.1093\/molbev\/msab244","article-title":"Alpha satellite insertion close to an ancestral centromeric region","volume":"38","author":"Giannuzzi","year":"2021","journal-title":"Mol. Biol. Evol."},{"key":"B160","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/s0387-7604(85)80046-2","article-title":"A \u201cnew\u201d chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome","volume":"7","author":"Gillberg","year":"1985","journal-title":"Brain Dev."},{"key":"B161","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.bcp.2015.06.012","article-title":"The human clinical phenotypes of altered CHRNA7 copy number","volume":"97","author":"Gillentine","year":"2015","journal-title":"Biochem. Pharmacol."},{"key":"B162","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1002\/msb.134859","article-title":"A chromatin structure-based model accurately predicts DNA replication timing in human cells","volume":"10","author":"Gindin","year":"2014","journal-title":"Mol. Syst. Biol."},{"key":"B163","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1093\/jnci\/85.11.875","article-title":"Folate, methionine, and alcohol intake and risk of colorectal adenoma","volume":"85","author":"Giovannucci","year":"1993","journal-title":"J. Natl. Cancer Inst."},{"key":"B164","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1007\/BF00278880","article-title":"Constitutional chromosomal breakage","volume":"34","author":"Giraud","year":"1976","journal-title":"Hum. Genet."},{"key":"B165","doi-asserted-by":"publisher","first-page":"e2100157","DOI":"10.1002\/bies.202100157","article-title":"Challenging endings: How telomeres prevent fragility","volume":"43","author":"Glousker","year":"2021","journal-title":"Bioessays."},{"key":"B166","first-page":"882","article-title":"Induction of sister chromatid exchanges at common fragile sites","volume":"41","author":"Glover","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"B167","first-page":"265","article-title":"Chromosome breakage and recombination at fragile sites","volume":"43","author":"Glover","year":"1988","journal-title":"Am. J. Hum. Genet."},{"key":"B168","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1007\/BF00272988","article-title":"DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes","volume":"67","author":"Glover","year":"1984","journal-title":"Hum. Genet."},{"key":"B169","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1038\/nrc.2017.52","article-title":"Fragile sites in cancer: More than meets the eye","volume":"17","author":"Glover","year":"2017","journal-title":"Nat. Rev. Cancer"},{"key":"B170","doi-asserted-by":"publisher","first-page":"24325","DOI":"10.1074\/jbc.271.40.24325","article-title":"Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter","volume":"271","author":"Godde","year":"1996","journal-title":"J. Biol. Chem."},{"key":"B171","first-page":"164","article-title":"Vitamin B12 deficiency in an 18p-patient","volume":"105","author":"Goh","year":"1981","journal-title":"Arch. Pathol. Lab. Med."},{"key":"B172","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/0014-4827(75)90647-3","article-title":"Chromosomal localisation of DNA sequences in condensed and dispersed human chromatin","volume":"92","author":"Gosden","year":"1975","journal-title":"Exp. Cell Res."},{"key":"B173","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1073\/pnas.77.4.1956","article-title":"Methotrexate-induced misincorporation of uracil into DNA","volume":"77","author":"Goulian","year":"1980","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B174","doi-asserted-by":"publisher","first-page":"503476","DOI":"10.1016\/j.mrgentox.2022.503476","article-title":"The role of BRCA2 in the fragility of interstitial telomeric sites","volume":"878","author":"Gozaly-Chianea","year":"2022","journal-title":"Mutat. Res. Genet. Toxicol. Environ. Mutagen."},{"key":"B175","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/j.mcna.2016.09.013","article-title":"Megaloblastic anemias: Nutritional and other causes","volume":"101","author":"Green","year":"2017","journal-title":"Med. Clin. North Am."},{"key":"B176","doi-asserted-by":"publisher","first-page":"e1004318","DOI":"10.1371\/journal.pgen.1004318","article-title":"R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome","volume":"10","author":"Groh","year":"2014","journal-title":"PLoS Genet."},{"key":"B177","doi-asserted-by":"publisher","first-page":"1705","DOI":"10.1093\/hmg\/3.9.1705","article-title":"A de novo deletion in FMR1 in a patient with developmental delay","volume":"3","author":"Gu","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"B178","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1006\/excr.1994.1068","article-title":"Exclusion of specific human chromosomes into micronuclei by 5-azacytidine treatment of lymphocyte cultures","volume":"211","author":"Guttenbach","year":"1994","journal-title":"Exp. Cell Res."},{"key":"B179","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1006\/mgme.2001.3225","article-title":"Fragile X syndrome: A model of gene-brain-behavior relationships","volume":"74","author":"Hagerman","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"B180","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/s0959-437x(02)00299-x","article-title":"The fragile X premutation: Into the phenotypic fold","volume":"12","author":"Hagerman","year":"2002","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B181","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1002\/ajmg.1320510404","article-title":"High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression","volume":"51","author":"Hagerman","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"B182","doi-asserted-by":"publisher","first-page":"564","DOI":"10.3389\/fpsyt.2018.00564","article-title":"Fragile X-associated neuropsychiatric disorders (FXAND)","volume":"9","author":"Hagerman","year":"2018","journal-title":"Front. Psychiatry"},{"key":"B183","first-page":"923","article-title":"Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data","volume":"55","author":"Hamel","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"B184","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1002\/(sici)1096-8628(19971112)72:4<430::aid-ajmg11>3.0.co;2-s","article-title":"Fragile X syndrome and deletions in FMR1: New case and review of the literature","volume":"72","author":"Hammond","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"B185","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1023\/a:1026737203447","article-title":"Analysis of replication timing at the FRA10B and FRA16B fragile site loci","volume":"8","author":"Handt","year":"2000","journal-title":"Chromosome Res."},{"key":"B186","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1016\/0092-8674(93)90365-w","article-title":"Association of fragile X syndrome with delayed replication of the FMR1 gene","volume":"73","author":"Hansen","year":"1993","journal-title":"Cell"},{"key":"B187","doi-asserted-by":"publisher","first-page":"4587","DOI":"10.1073\/pnas.94.9.4587","article-title":"A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication","volume":"94","author":"Hansen","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B188","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1136\/jmg.14.1.46","article-title":"Familial X-linked mental retardation with an X chromosome abnormality","volume":"14","author":"Harvey","year":"1977","journal-title":"J. Med. Genet."},{"key":"B189","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1182\/blood.v27.6.800.800","article-title":"Cytogenetic observations in vitamin B12 and folate deficiency","volume":"27","author":"Heath","year":"1966","journal-title":"Blood"},{"key":"B190","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/0165-4608(90)90175-a","article-title":"Location of FRAXD in Xq27.2. Fragile sites on the X chromosome","volume":"49","author":"Hecht","year":"1990","journal-title":"Cancer Genet. cytogenet."},{"key":"B191","first-page":"223","article-title":"The importance of being a fragile site","volume":"31","author":"Hecht","year":"1979","journal-title":"Am. J. Hum. Genet."},{"key":"B192","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1111\/j.1399-0004.1984.tb01063.x","article-title":"Detection of the fragile X chromosome and other fragile sites","volume":"26","author":"Hecht","year":"1984","journal-title":"Clin. Genet."},{"key":"B193","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1111\/j.1399-0004.1985.tb01227.x","article-title":"Detection of fragile sites on human chromosomes","volume":"28","author":"Hecht","year":"1985","journal-title":"Clin. Genet."},{"key":"B194","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1007\/BF00282099","article-title":"Rare, polymorphic, and common fragile sites: A classification","volume":"74","author":"Hecht","year":"1986","journal-title":"Hum. Genet."},{"key":"B195","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1021\/bi5013707","article-title":"Probing the DNA structural requirements for facilitated diffusion","volume":"54","author":"Hedglin","year":"2015","journal-title":"Biochemistry"},{"key":"B196","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1136\/jmg.29.11.794","article-title":"Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation","volume":"29","author":"Heitz","year":"1992","journal-title":"J. Med. Genet."},{"key":"B197","doi-asserted-by":"publisher","first-page":"2199","DOI":"10.1091\/mbc.8.11.2199","article-title":"Electron tomography of metaphase nucleolar organizer regions: Evidence for a twisted-loop organization","volume":"8","author":"Heliot","year":"1997","journal-title":"Mol. Biol. Cell"},{"key":"B198","doi-asserted-by":"publisher","first-page":"4420","DOI":"10.1128\/MCB.20.12.4420-4427.2000","article-title":"Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability","volume":"20","author":"Hellman","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"B199","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1016\/j.molcel.2011.10.013","article-title":"Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes","volume":"44","author":"Helmrich","year":"2011","journal-title":"Mol. Cell"},{"key":"B200","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1056\/NEJMra1508861","article-title":"Drug-induced megaloblastic anemia","volume":"373","author":"Hesdorffer","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"B201","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1056\/NEJMc1515180","article-title":"Drug-induced megaloblastic anemia","volume":"374","author":"Hesdorffer","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"B202","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/s1097-2765(00)80077-5","article-title":"FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site Genesis","volume":"1","author":"Hewett","year":"1998","journal-title":"Mol. Cell"},{"key":"B203","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1007\/BF00200908","article-title":"Sister chromatid exchanges are preferentially induced at expressed and nonexpressed common fragile sites","volume":"87","author":"Hirsch","year":"1991","journal-title":"Hum. Genet."},{"key":"B204","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1093\/hmg\/2.2.197","article-title":"The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE","volume":"2","author":"Hirst","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"B205","first-page":"67","article-title":"Two new cases of FMR1 deletion associated with mental impairment","volume":"56","author":"Hirst","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"B206","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1023\/a:1009293613064","article-title":"Homozygotes for FRA16B are normal","volume":"7","author":"Hocking","year":"1999","journal-title":"Chromosome Res."},{"key":"B207","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1159\/000132543","article-title":"Fragile X expression in thymidine-prototrophic and auxotrophic human-mouse somatic cell hybrids under low and high thymidylate stress conditions","volume":"47","author":"Hori","year":"1988","journal-title":"Cytogenet. Cell Genet."},{"key":"B208","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/s0165-4608(97)00222-7","article-title":"A distamycin A-inducible fragile site, FRA8E, located in the region of the hereditary multiple exostoses gene, is not involved in HPV16 DNA integration and amplification","volume":"101","author":"Hori","year":"1998","journal-title":"Cancer Genet. cytogenet."},{"key":"B209","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1101\/gr.275838.121","article-title":"The human ribosomal DNA array is composed of highly homogenized tandem clusters","volume":"31","author":"Hori","year":"2021","journal-title":"Genome Res."},{"key":"B210","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/j.canlet.2006.02.004","article-title":"FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD)","volume":"246","author":"Hormozian","year":"2007","journal-title":"Cancer Lett."},{"key":"B211","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1006\/geno.1995.1218","article-title":"A 4-megabase YAC contig that spans the langer-giedion syndrome region on human chromosome 8q24.1: Use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)","volume":"29","author":"Hou","year":"1995","journal-title":"Genomics"},{"key":"B212","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1136\/jmg.27.8.527","article-title":"A new apparently folate sensitive fragile site, 5q35","volume":"27","author":"Howell","year":"1990","journal-title":"J. Med. Genet."},{"key":"B213","doi-asserted-by":"publisher","first-page":"eabk3112","DOI":"10.1126\/science.abk3112","article-title":"From telomere to telomere: The transcriptional and epigenetic state of human repeat elements","volume":"376","author":"Hoyt","year":"2022","journal-title":"Science"},{"key":"B214","doi-asserted-by":"publisher","first-page":"17315","DOI":"10.1074\/jbc.M200901200","article-title":"Human fragile site FRA16B DNA excludes nucleosomes in the presence of distamycin","volume":"277","author":"Hsu","year":"2002","journal-title":"J. Biol. Chem."},{"key":"B215","doi-asserted-by":"publisher","first-page":"9051","DOI":"10.1073\/pnas.88.20.9051","article-title":"Origin of human chromosome 2: An ancestral telomere-telomere fusion","volume":"88","author":"Ijdo","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B216","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1016\/0888-7543(92)90319-n","article-title":"FRA2B is distinct from inverted telomere repeat arrays at 2q13","volume":"12","author":"Ijdo","year":"1992","journal-title":"Genomics"},{"key":"B217","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.canlet.2005.06.048","article-title":"Roles of FHIT and WWOX fragile genes in cancer","volume":"232","author":"Iliopoulos","year":"2006","journal-title":"Cancer Lett."},{"key":"B218","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/gcc.22715","article-title":"Genomic instability in fragile sites-still adding the pieces","volume":"58","author":"Irony-Tur Sinai","year":"2019","journal-title":"Genes Chromosom. Cancer"},{"key":"B219","doi-asserted-by":"publisher","first-page":"9685","DOI":"10.1093\/nar\/gkz689","article-title":"AT-dinucleotide rich sequences drive fragile site formation","volume":"47","author":"Irony-Tur Sinai","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"B220","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.gde.2020.05.029","article-title":"Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation","volume":"65","author":"Ishiura","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B221","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/s41588-018-0067-2","article-title":"Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy","volume":"50","author":"Ishiura","year":"2018","journal-title":"Nat. Genet."},{"key":"B222","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1038\/s41588-019-0458-z","article-title":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease","volume":"51","author":"Ishiura","year":"2019","journal-title":"Nat. Genet."},{"key":"B223","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1007\/BF00292597","article-title":"Homozygosity for fragile site at 17p12 in a 28-year-old healthy man","volume":"68","author":"Izakovic","year":"1984","journal-title":"Hum. Genet."},{"key":"B224","first-page":"171","article-title":"Fragile X chromosome and chromosome condensation","volume":"26","author":"Jacky","year":"1983","journal-title":"Ann. Genet."},{"key":"B225","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1126\/science.6828880","article-title":"Fragile sites in chromosomes: Possible model for the study of spontaneous chromosome breakage","volume":"220","author":"Jacky","year":"1983","journal-title":"Science"},{"key":"B226","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1002\/ajmg.1320380249","article-title":"Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes","volume":"38","author":"Jacky","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B227","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1093\/jn\/128.7.1204","article-title":"Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women","volume":"128","author":"Jacob","year":"1998","journal-title":"J. Nutr."},{"key":"B228","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/ajmg.1320070408","article-title":"X-Linked mental retardation: A study of 7 families","volume":"7","author":"Jacobs","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"B229","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1159\/000152624","article-title":"An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study","volume":"23","author":"Jacobsen","year":"1973","journal-title":"Hum. Hered."},{"key":"B230","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.1038\/embor.2011.158","article-title":"Lac operator repeats generate a traceable fragile site in mammalian cells","volume":"12","author":"Jacome","year":"2011","journal-title":"EMBO Rep."},{"key":"B231","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1002\/ajmg.1320460419","article-title":"Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy","volume":"46","author":"Jalal","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"B232","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1093\/hmg\/2.6.731","article-title":"An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome","volume":"2","author":"Jeanpierre","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"B233","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1159\/000163342","article-title":"Low frequencies of apparently fragile X chromosomes in normal control cultures: A possible explanation","volume":"54","author":"Jenkins","year":"","journal-title":"Exp. Cell Biol."},{"key":"B234","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1002\/ajmg.1320230123","article-title":"The prenatal detection of the fragile X chromosome: Review of recent experience","volume":"23","author":"Jenkins","year":"","journal-title":"Am. J. Med. Genet."},{"key":"B235","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1159\/000163591","article-title":"Progress toward an internal control system for fragile-X induction by 5-fluorodeoxyuridine in whole-blood cultures","volume":"58","author":"Jenkins","year":"1990","journal-title":"Pathobiology"},{"key":"B236","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1111\/j.0954-6820.1967.tb07277.x","article-title":"Chromosome studies in pernicious anaemia","volume":"181","author":"Jensen","year":"1967","journal-title":"Acta Med. Scand."},{"key":"B237","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1038\/s41422-020-0357-y","article-title":"Genome-wide high-resolution mapping of mitotic DNA synthesis sites and common fragile sites by direct sequencing","volume":"30","author":"Ji","year":"2020","journal-title":"Cell Res."},{"key":"B238","doi-asserted-by":"publisher","first-page":"4501","DOI":"10.1093\/hmg\/ddp410","article-title":"Common fragile sites are characterized by histone hypoacetylation","volume":"18","author":"Jiang","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"B239","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1080\/14737159.2017.1377612","article-title":"Size and methylation mosaicism in males with Fragile X syndrome","volume":"17","author":"Jiraanont","year":"2017","journal-title":"Expert Rev. Mol. diagn."},{"key":"B240","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1038\/240412a0","article-title":"Loss of genes coding for ribosomal RNA in ageing brain cells","volume":"240","author":"Johnson","year":"1972","journal-title":"Nature"},{"key":"B241","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1038\/newbio233268a0","article-title":"Location of satellite and homogeneous DNA sequences on human chromosomes","volume":"233","author":"Jones","year":"1971","journal-title":"Nat. New Biol."},{"key":"B242","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1007\/BF00399411","article-title":"The chromosomal location of human satellite DNA 3","volume":"42","author":"Jones","year":"1973","journal-title":"Chromosoma"},{"key":"B243","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1007\/BF00348888","article-title":"The chromosomal localisation of human satellite DNA I","volume":"49","author":"Jones","year":"1974","journal-title":"Chromosoma"},{"key":"B244","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1093\/hmg\/3.12.2123","article-title":"Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3","volume":"3","author":"Jones","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"B245","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/376145a0","article-title":"Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2","volume":"376","author":"Jones","year":"1995","journal-title":"Nature"},{"key":"B246","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/BF00288261","article-title":"Population cytogenetics of folate-sensitive fragile sites. II. Autosomal rare fragile sites","volume":"82","author":"K\u00e4hk\u00f6nen","year":"1989","journal-title":"Hum. Genet."},{"key":"B247","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1007\/BF00273649","article-title":"Population cytogenetics of folate-sensitive fragile sites. I. Common fragile sites","volume":"80","author":"K\u00e4hk\u00f6nen","year":"1988","journal-title":"Hum. Genet."},{"key":"B248","doi-asserted-by":"publisher","first-page":"27014","DOI":"10.1074\/jbc.270.45.27014","article-title":"Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes","volume":"270","author":"Kang","year":"1995","journal-title":"J. Biol. Chem."},{"key":"B249","first-page":"6278","article-title":"Increased fragile sites and sister chromatid exchanges in bone marrow and peripheral blood of young cigarette smokers","volume":"47","author":"Kao-Shan","year":"1987","journal-title":"Cancer Res."},{"key":"B250","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/ajmg.a.10196","article-title":"New heritable fragile site at 15q13 in both members of a nonconsanguineous couple","author":"Karadeniz","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"B251","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1159\/000455753","article-title":"Fragile genes that are frequently altered in cancer: Players not passengers","volume":"150","author":"Karras","year":"2016","journal-title":"Cytogenet. Genome Res."},{"key":"B252","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/0165-1218(92)90007-m","article-title":"Mechanism of induction of micronuclei and chromosome aberrations in mouse bone marrow by multiple treatments of methotrexate","volume":"280","author":"Kasahara","year":"1992","journal-title":"Mutat. Res."},{"key":"B253","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1002\/gcc.22721","article-title":"The role of fork stalling and DNA structures in causing chromosome fragility","volume":"58","author":"Kaushal","year":"2019","journal-title":"Genes Chromosom. Cancer"},{"key":"B254","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1007\/BF00331789","article-title":"Cytological evidence of defective template in the fragile X chromosome","volume":"97","author":"Kerem","year":"1988","journal-title":"Chromosoma"},{"key":"B255","doi-asserted-by":"publisher","first-page":"33","DOI":"10.2147\/TACG.S39297","article-title":"Genetics of bipolar disorder","volume":"7","author":"Kerner","year":"2014","journal-title":"Appl. Clin. Genet."},{"key":"B256","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/s13760-016-0667-5","article-title":"Phenotypic variability in two infants sharing the same MECP2 mutation: Evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome","volume":"117","author":"Kharrat","year":"2017","journal-title":"Acta Neurol. belg."},{"key":"B257","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/s0169-5002(98)00036-1","article-title":"Genetic instability of microsatellite sequences in non-small cell lung cancers","volume":"21","author":"Kim","year":"1998","journal-title":"Lung Cancer"},{"key":"B258","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/s0022-2836(61)80075-2","article-title":"Equilibrium sedimentation in density gradients of DNA preparations from animal tissues","volume":"3","author":"Kit","year":"1961","journal-title":"J. Mol. Biol."},{"key":"B259","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/0092-8674(93)90300-f","article-title":"Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation","volume":"74","author":"Knight","year":"1993","journal-title":"Cell"},{"key":"B260","first-page":"81","article-title":"Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap","volume":"55","author":"Knight","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"B261","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1101\/gr.5704207","article-title":"The landscape of histone modifications across 1% of the human genome in five human cell lines","volume":"17","author":"Koch","year":"2007","journal-title":"Genome Res."},{"key":"B262","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1002\/ajmg.1320380264","article-title":"Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis","volume":"38","author":"Krawczun","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B263","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1126\/science.1675488","article-title":"Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n","volume":"252","author":"Kremer","year":"1991","journal-title":"Science"},{"key":"B264","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1006\/geno.2000.6321","article-title":"The characterization of the common fragile site FRA16D and its involvement in multiple myeloma translocations","volume":"69","author":"Krummel","year":"2000","journal-title":"Genomics"},{"key":"B265","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1002\/gcc.10047","article-title":"The common fragile site FRA16D and its associated gene WWOX are highly conserved in the mouse at Fra8E1","volume":"34","author":"Krummel","year":"2002","journal-title":"Genes Chromosom. Cancer"},{"key":"B266","doi-asserted-by":"publisher","first-page":"4385","DOI":"10.1093\/nar\/gkp391","article-title":"The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome","volume":"37","author":"Kumari","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"B267","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.mrfmmm.2015.08.007","article-title":"Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia","volume":"781","author":"Kumari","year":"2015","journal-title":"Mutat. Res."},{"key":"B268","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/0027-5107(82)90304-9","article-title":"The mutagenic effect of deoxynucleotide substrate imbalances during DNA synthesis with mammalian DNA polymerases","volume":"94","author":"Kunkel","year":"1982","journal-title":"Mutat. Res."},{"key":"B269","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1146\/annurev.ge.25.120191.002011","article-title":"Modulation of mutagenesis by deoxyribonucleotide levels","volume":"25","author":"Kunz","year":"1991","journal-title":"Annu. Rev. Genet."},{"key":"B270","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1093\/genetics\/114.2.375","article-title":"Induction of intrachromosomal recombination in yeast by inhibition of thymidylate biosynthesis","volume":"114","author":"Kunz","year":"1986","journal-title":"Genetics"},{"key":"B271","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1002\/em.2860040609","article-title":"Genetic effects of deoxyribonucleotide pool imbalances","volume":"4","author":"Kunz","year":"1982","journal-title":"Environ. Mutagen."},{"key":"B272","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/0027-5107(88)90076-0","article-title":"Mutagenesis and deoxyribonucleotide pool imbalance","volume":"200","author":"Kunz","year":"1988","journal-title":"Mutat. Res."},{"key":"B273","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1002\/ajmg.1320380260","article-title":"Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome","volume":"38","author":"Kupke","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B274","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/BF00210803","article-title":"Cell type-dependent difference in the distribution and frequency of excess thymidine-induced common fragile sites: T lymphocytes and skin fibroblasts","volume":"84","author":"Kuwano","year":"1990","journal-title":"Hum. Genet."},{"key":"B275","doi-asserted-by":"publisher","first-page":"13195","DOI":"10.1038\/s41598-021-92631-z","article-title":"Progerin impairs 3D genome organization and induces fragile telomeres by limiting the dNTP pools","volume":"11","author":"Kychygina","year":"2021","journal-title":"Sci. Rep."},{"key":"B276","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/(SICI)1097-0215(19960422)69:2<110::AID-IJC7>3.0.CO;2-3","article-title":"Microsatellite instability and deletion analysis of chromosome 10 in human prostate cancer","volume":"69","author":"Lacombe","year":"1996","journal-title":"Int. J. Cancer"},{"key":"B277","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.ajhg.2018.11.005","article-title":"GGC repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in baratela-scott syndrome","volume":"104","author":"LaCroix","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B278","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1093\/hmg\/7.4.755","article-title":"Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: Implications for the mechanism of fragile site induction","volume":"7","author":"Le Beau","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"B279","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1038\/nsmb.2155","article-title":"Molecular profiling of common fragile sites in human fibroblasts","volume":"18","author":"Le Tallec","year":"2011","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B280","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1016\/j.celrep.2013.07.003","article-title":"Common fragile site profiling in epithelial and erythroid cells reveals that most recurrent cancer deletions lie in fragile sites hosting large genes","volume":"4","author":"Le Tallec","year":"2013","journal-title":"Cell Rep."},{"key":"B281","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.3390\/cells10071637","article-title":"Molecular biology of the WWOX gene that spans chromosomal fragile site FRA16D","volume":"10","author":"Lee","year":"2021","journal-title":"Cells"},{"key":"B282","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1128\/mcb.5.12.3443","article-title":"DNA precursor pools and ribonucleotide reductase activity: Distribution between the nucleus and cytoplasm of mammalian cells","volume":"5","author":"Leeds","year":"1985","journal-title":"Mol. Cell. Biol."},{"key":"B283","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1097\/00041444-200303000-00007","article-title":"Clinical, cytogenetic, and molecular description of a FRAXE French family","volume":"13","author":"Lesca","year":"2003","journal-title":"Psychiatr. Genet."},{"key":"B284","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1038\/nature09745","article-title":"Cell-type-specific replication initiation programs set fragility of the FRA3B fragile site","volume":"470","author":"Letessier","year":"2011","journal-title":"Nature"},{"key":"B285","doi-asserted-by":"publisher","first-page":"4205","DOI":"10.1128\/JVI.72.5.4205-4211.1998","article-title":"A tandem array of minimal U1 small nuclear RNA genes is sufficient to generate a new adenovirus type 12-inducible chromosome fragile site","volume":"72","author":"Li","year":"1998","journal-title":"J. Virol."},{"key":"B286","doi-asserted-by":"publisher","first-page":"720507","DOI":"10.3389\/fgene.2021.720507","article-title":"Molecular cytogenetics in the era of chromosomics and cytogenomic approaches","volume":"12","author":"Liehr","year":"2021","journal-title":"Front. Genet."},{"key":"B287","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1126\/science.286.5446.1897","article-title":"Quality control by DNA repair","volume":"286","author":"Lindahl","year":"1999","journal-title":"Science"},{"key":"B288","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1126\/science.1102832","article-title":"Expanded repeat in canine epilepsy","volume":"307","author":"Lohi","year":"2005","journal-title":"Science"},{"key":"B289","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/humu.22177","article-title":"Somatic expansion in mouse and human carriers of fragile X premutation alleles","volume":"34","author":"Lokanga","year":"2013","journal-title":"Hum. Mutat."},{"key":"B290","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/j.1432-1033.1988.tb14427.x","article-title":"Step-wise progression of mammalian 10-kb DNA replication intermediates to mature chromatin","volume":"178","author":"L\u00f6nn","year":"1988","journal-title":"Eur. J. Biochem."},{"key":"B291","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1186\/1297-9686-28-2-129","article-title":"Induction of chromosomal fragile sites in goats: A preliminary study","volume":"28","author":"Lopez Corrales","year":"1996","journal-title":"Genet. Sel. Evol."},{"key":"B292","doi-asserted-by":"publisher","first-page":"134","DOI":"10.5582\/irdr.2014.01022","article-title":"Fragile X spectrum disorders","volume":"3","author":"Lozano","year":"2014","journal-title":"Intractable Rare Dis. Res."},{"key":"B293","first-page":"231","article-title":"A marker X chromosome","volume":"21","author":"Lubs","year":"1969","journal-title":"Am. J. Hum. Genet."},{"key":"B294","first-page":"1197","article-title":"Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome","volume":"49","author":"L\u00fcdecke","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"B295","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1038\/ng0895-483","article-title":"Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome","volume":"10","author":"Lugenbeel","year":"1995","journal-title":"Nat. Genet."},{"key":"B296","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.bbagrm.2007.10.005","article-title":"Human chromosome fragility","volume":"1779","author":"Lukusa","year":"2008","journal-title":"Biochim. Biophys. Acta"},{"key":"B297","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1007\/BF00209017","article-title":"Spontaneous\u201d FRA16B is a hot spot for sister chromatid exchanges","volume":"87","author":"Lukusa","year":"1991","journal-title":"Hum. Genet."},{"key":"B298","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/BF01232750","article-title":"DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation","volume":"19","author":"Luo","year":"1993","journal-title":"Somat. Cell Mol. Genet."},{"key":"B299","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1006\/geno.1995.1166","article-title":"The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes","volume":"28","author":"Lyle","year":"1995","journal-title":"Genomics"},{"key":"B300","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1083\/jcb.201806052","article-title":"Interchromosomal interactions: A genomic love story of kissing chromosomes","volume":"218","author":"Maass","year":"2019","journal-title":"J. Cell Biol."},{"key":"B301","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1016\/j.molcel.2016.09.017","article-title":"FANCD2 facilitates replication through common fragile sites","volume":"64","author":"Madireddy","year":"2016","journal-title":"Mol. Cell"},{"key":"B302","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1126\/science.170.3953.85","article-title":"Heritable fragile site on chromosome 16: Probable localization of haptoglobin locus in man","volume":"170","author":"Magenis","year":"1970","journal-title":"Science"},{"key":"B303","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1136\/jmg.24.5.299","article-title":"Folate sensitive site at 10q23 and its expression as a deletion","volume":"24","author":"Maltby","year":"1987","journal-title":"J. Med. Genet."},{"key":"B304","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0297-165","article-title":"Characterization of the full fragile X syndrome mutation in fetal gametes","volume":"15","author":"Malter","year":"1997","journal-title":"Nat. Genet."},{"key":"B305","first-page":"1683","article-title":"Chromosomal fragile site FRA16D and DNA instability in cancer","volume":"60","author":"Mangelsdorf","year":"2000","journal-title":"Cancer Res."},{"key":"B306","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.ajpath.2012.09.011","article-title":"Depletion of deoxyribonucleotide pools is an endogenous source of DNA damage in cells undergoing oncogene-induced senescence","volume":"182","author":"Mannava","year":"2013","journal-title":"Am. J. Pathol."},{"key":"B307","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1136\/jmg.25.3.173","article-title":"Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: The ICF syndrome","volume":"25","author":"Maraschio","year":"1988","journal-title":"J. Med. Genet."},{"key":"B308","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1136\/jnnp.6.3-4.154","article-title":"A pedigree of mental defect showing sex-linkage","volume":"6","author":"Martin","year":"1943","journal-title":"J. Neurol. Psychiatry"},{"key":"B309","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1177\/0306312704046843","article-title":"Can\u2019t any body count?: Counting as an epistemic theme in the history of human chromosomes","volume":"34","author":"Martin","year":"2004","journal-title":"Soc. Stud. Sci."},{"key":"B310","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1007\/BF03260084","article-title":"Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype","volume":"9","author":"Mart\u00ednez","year":"2005","journal-title":"Mol. Diagn."},{"key":"B311","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/bies.950140502","article-title":"DNA precursor asymmetries, replication fidelity, and variable genome evolution","volume":"14","author":"Mathews","year":"1992","journal-title":"Bioessays"},{"key":"B312","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/0014-4827(75)90635-7","article-title":"Giant pools of DNA precursors in sea urchin eggs","volume":"92","author":"Mathews","year":"1975","journal-title":"Exp. Cell Res."},{"key":"B313","doi-asserted-by":"publisher","first-page":"1300","DOI":"10.1096\/fj.06-5730rev","article-title":"DNA precursor metabolism and genomic stability","volume":"20","author":"Mathews","year":"2006","journal-title":"FASEB J."},{"key":"B314","doi-asserted-by":"publisher","first-page":"3832","DOI":"10.1096\/fj.14-251249","article-title":"Deoxyribonucleotides as genetic and metabolic regulators","volume":"28","author":"Mathews","year":"2014","journal-title":"FASEB J."},{"key":"B315","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1038\/nrc3981","article-title":"Deoxyribonucleotide metabolism, mutagenesis and cancer","volume":"15","author":"Mathews","year":"2015","journal-title":"Nat. Rev. Cancer"},{"key":"B316","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1096\/fj.201601100","article-title":"Oxidized deoxyribonucleotides, mutagenesis, and cancer","volume":"31","author":"Mathews","year":"2017","journal-title":"FASEB J."},{"key":"B317","doi-asserted-by":"publisher","first-page":"15898","DOI":"10.1074\/jbc.H119.011335","article-title":"Deoxyribonucleotide salvage falls short in whole animals","volume":"294","author":"Mathews","year":"2019","journal-title":"J. Biol. Chem."},{"key":"B318","first-page":"4566","article-title":"Mutations induced at the hypoxanthine-guanine phosphoribosyltransferase locus of human T-lymphoblasts by perturbations of purine deoxyribonucleoside triphosphate pools","volume":"50","author":"Mattano","year":"1990","journal-title":"Cancer Res."},{"key":"B319","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1007\/BF00293069","article-title":"Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach","volume":"59","author":"Mattei","year":"1981","journal-title":"Hum. Genet."},{"key":"B320","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/s0304-3835(02)00504-9","article-title":"Preferential integration of a transfected marker gene into spontaneously expressed fragile sites of a breast cancer cell line","volume":"189","author":"Matzner","year":"2003","journal-title":"Cancer Lett."},{"key":"B321","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1002\/ajmg.1320380259","article-title":"Autosomal folate sensitive fragile sites in normal and mentally retarded individuals in Greece","volume":"38","author":"Mavrou","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B322","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/BF00319694","article-title":"An analysis of the technical variables in the production of C bands","volume":"41","author":"McKenzie","year":"1973","journal-title":"Chromosoma"},{"key":"B323","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1002\/ajmg.1320300136","article-title":"Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture","volume":"30","author":"McKinley","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"B324","doi-asserted-by":"publisher","first-page":"1598","DOI":"10.1101\/gad.283838.116","article-title":"Nucleolar organizer regions: Genomic \u201cdark matter\u201d requiring illumination","volume":"30","author":"McStay","year":"2016","journal-title":"Genes Dev."},{"key":"B325","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/s0304-3835(99)00213-x","article-title":"Uracil misincorporation, DNA strand breaks, and gene amplification are associated with tumorigenic cell transformation in folate deficient\/repleted Chinese hamster ovary cells","volume":"146","author":"Melnyk","year":"1999","journal-title":"Cancer Lett."},{"key":"B326","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1038\/nature09758","article-title":"Co-directional replication-transcription conflicts lead to replication restart","volume":"470","author":"Merrikh","year":"2011","journal-title":"Nature"},{"key":"B327","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1002\/humu.22683","article-title":"A CGG-repeat expansion mutation in ZNF713 causes FRA7A: Association with autistic spectrum disorder in two families","volume":"35","author":"Metsu","year":"","journal-title":"Hum. Mutat."},{"key":"B328","doi-asserted-by":"publisher","first-page":"e1004242","DOI":"10.1371\/journal.pgen.1004242","article-title":"FRA2A is a CGG repeat expansion associated with silencing of AFF3","volume":"10","author":"Metsu","year":"","journal-title":"PLoS Genet."},{"key":"B329","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/0027-5107(84)90051-4","article-title":"The genetic consequences of nucleotide precursor pool imbalance in mammalian cells","volume":"126","author":"Meuth","year":"1984","journal-title":"Mutat. Res."},{"key":"B330","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/(sici)1096-8628(19980319)76:3<222::aid-ajmg5>3.0.co;2-s","article-title":"Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B","volume":"76","author":"Michaelis","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"B331","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s004390050632","article-title":"Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer\u2019s disease","volume":"101","author":"Migliore","year":"1997","journal-title":"Hum. Genet."},{"key":"B332","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1093\/mutage\/geq067","article-title":"Association of micronucleus frequency with neurodegenerative diseases","volume":"26","author":"Migliore","year":"2011","journal-title":"Mutagenesis"},{"key":"B333","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1097\/GIM.0b013e3181ff67ba","article-title":"Autism spectrum disorders-a genetics review","volume":"13","author":"Miles","year":"2011","journal-title":"Genet. Med."},{"key":"B334","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1002\/ajmg.1320450514","article-title":"46, XY\/47, XYY male with the fragile X syndrome: Cytogenetic and molecular studies","volume":"45","author":"Milunsky","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"B335","doi-asserted-by":"publisher","first-page":"7456","DOI":"10.1073\/pnas.96.13.7456","article-title":"Cancer-specific chromosome alterations in the constitutive fragile region FRA3B","volume":"96","author":"Mimori","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B336","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/j.tcb.2013.11.007","article-title":"Structure-specific endonucleases: Guardians of fragile site stability","volume":"24","author":"Minocherhomji","year":"2014","journal-title":"Trends Cell Biol."},{"key":"B337","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/nature16139","article-title":"Replication stress activates DNA repair synthesis in mitosis","volume":"528","author":"Minocherhomji","year":"2015","journal-title":"Nature"},{"key":"B338","doi-asserted-by":"publisher","first-page":"E4810","DOI":"10.1073\/pnas.1609060113","article-title":"Selectivity of ORC binding sites and the relation to replication timing, fragile sites, and deletions in cancers","volume":"113","author":"Miotto","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B339","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/BF00284105","article-title":"Fragile sites, chromosome evolution, and human neoplasia","volume":"75","author":"Mir\u00f3","year":"1987","journal-title":"Hum. Genet."},{"key":"B340","doi-asserted-by":"publisher","first-page":"8141","DOI":"10.1073\/pnas.95.14.8141","article-title":"Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site","volume":"95","author":"Mishmar","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B341","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1086\/302299","article-title":"Common fragile sites: G-Band characteristics within an R-band","volume":"64","author":"Mishmar","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"B342","doi-asserted-by":"publisher","first-page":"4356","DOI":"10.1093\/hmg\/dds267","article-title":"Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder","volume":"21","author":"Mondal","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"B343","first-page":"565","article-title":"Fragile X syndrome with FMR1 and FMR2 deletion","volume":"36","author":"Moore","year":"1999","journal-title":"J. Med. Genet."},{"key":"B344","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1002\/pd.1134","article-title":"A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: A case report and review of the literature","volume":"25","author":"Morel","year":"2005","journal-title":"Prenat. Diagn."},{"key":"B345","doi-asserted-by":"publisher","first-page":"929","DOI":"10.3892\/ijo_00000572","article-title":"Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones","volume":"36","author":"Mrasek","year":"2010","journal-title":"Int. J. Oncol."},{"key":"B346","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1007\/BF00221948","article-title":"Fragile site (16) (q22). III. Segregation analysis","volume":"89","author":"M\u00fcller","year":"1992","journal-title":"Hum. Genet."},{"key":"B347","first-page":"120","article-title":"Assessment of X bends in patients with atypical X chromosome phenotypes","volume":"34","author":"Munn","year":"1991","journal-title":"Ann. Genet."},{"key":"B348","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.1093\/carcin\/bgs206","article-title":"Perturbed replication induced genome wide or at common fragile sites is differently managed in the absence of WRN","volume":"33","author":"Murfuni","year":"2012","journal-title":"Carcinogenesis"},{"key":"B349","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1055\/s-2000-13476","article-title":"Premature ovarian failure and the FMR1 gene","volume":"18","author":"Murray","year":"2000","journal-title":"Semin. Reprod. Med."},{"key":"B350","first-page":"11","article-title":"Distribution of interstitial telomere-related sequences in the human genome and their relationship with fragile sites","volume":"18","author":"Musio","year":"1999","journal-title":"J. Environ. Pathol. Toxicol. Oncol."},{"key":"B351","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1002\/(sici)1098-2280(1997)29:3<250::aid-em4>3.0.co;2-g","article-title":"Aphidicolin-sensitive specific common fragile sites: A biomarker of exposure to pesticides","volume":"29","author":"Musio","year":"1997","journal-title":"Environ. Mol. Mutagen."},{"key":"B352","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1159\/000134469","article-title":"Spontaneous and aphidicolin-sensitive fragile site 3cen co-localizes with the (TTAGGG)n telomeric sequence in Chinese hamster cells","volume":"75","author":"Musio","year":"1996","journal-title":"Cytogenet. Cell Genet."},{"key":"B353","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/ncb2793","article-title":"ERCC1 and MUS81-EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis","volume":"15","author":"Naim","year":"2013","journal-title":"Nat. Cell Biol."},{"key":"B354","doi-asserted-by":"publisher","first-page":"1938","DOI":"10.1126\/science.8009225","article-title":"Implications of FRA16A structure for the mechanism of chromosomal fragile site Genesis","volume":"264","author":"Nancarrow","year":"1994","journal-title":"Science"},{"key":"B355","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1111\/j.1399-0004.1988.tb03413.x","article-title":"Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies","volume":"33","author":"Neu","year":"1988","journal-title":"Clin. Genet."},{"key":"B356","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1007\/s00439-005-0037-5","article-title":"DNA methylation and replication: Implications for the \u201cdeletion hotspot\u201d region of FMR1","volume":"118","author":"Nichol Edamura","year":"2005","journal-title":"Hum. Genet."},{"key":"B357","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1002\/ajmg.1320230146","article-title":"Sex chromosome aneuploidy in fragile X carriers","volume":"23","author":"Nielsen","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B358","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1126\/science.abj6987","article-title":"The complete sequence of a human genome","volume":"376","author":"Nurk","year":"2022","journal-title":"Science"},{"key":"B359","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1007\/BF00327113","article-title":"Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid","volume":"64","author":"Nussbaum","year":"1983","journal-title":"Hum. Genet."},{"key":"B360","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1002\/ajmg.1320230162","article-title":"Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: An hypothesis","volume":"23","author":"Nussbaum","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B361","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/223851a0","article-title":"Chromosome changes in human cells induced by herpes simplex, types 1 and 2","volume":"223","author":"O\u2019Neill","year":"1969","journal-title":"Nature"},{"key":"B362","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","article-title":"Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome","volume":"252","author":"Oberl\u00e9","year":"1991","journal-title":"Science"},{"key":"B363","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1101\/gr.5.4.342","article-title":"An integrated map of human chromosome 6p23","volume":"5","author":"Olavesen","year":"1995","journal-title":"Genome Res."},{"key":"B364","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/BF00295489","article-title":"Satellite association and variations in length of the nucleolar constriction of normal and variant human G chromosomes","volume":"22","author":"Orye","year":"1974","journal-title":"Humangenetik"},{"key":"B365","doi-asserted-by":"publisher","first-page":"2109","DOI":"10.1038\/sj.onc.1210849","article-title":"Interplay between ATM and ATR in the regulation of common fragile site stability","volume":"27","author":"Ozeri-Galai","year":"2008","journal-title":"Oncogene"},{"key":"B366","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/j.tig.2012.02.006","article-title":"The complex basis underlying common fragile site instability in cancer","volume":"28","author":"Ozeri-Galai","year":"2012","journal-title":"Trends Genet."},{"key":"B367","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/0165-4608(94)90034-5","article-title":"Spontaneous expression of the chromosome fragile site at 10q23 in leiomyoma","volume":"74","author":"Ozisik","year":"1994","journal-title":"Cancer Genet. cytogenet."},{"key":"B368","first-page":"1690","article-title":"A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D","volume":"60","author":"Paige","year":"2000","journal-title":"Cancer Res."},{"key":"B369","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1002\/gcc.10290","article-title":"The role of late\/slow replication of the FRA16D in common fragile site induction","volume":"39","author":"Palakodeti","year":"2004","journal-title":"Genes Chromosom. Cancer"},{"key":"B370","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1093\/hmg\/ddp470","article-title":"Impaired replication dynamics at the FRA3B common fragile site","volume":"19","author":"Palakodeti","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B371","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/s00412-010-0279-4","article-title":"Replication dynamics at common fragile site FRA6E","volume":"119","author":"Palumbo","year":"2010","journal-title":"Chromosoma"},{"key":"B372","doi-asserted-by":"publisher","first-page":"798","DOI":"10.3390\/genes12060798","article-title":"Detection of cryptic fragile X full mutation alleles by southern blot in a female and her foetal DNA via chorionic villus sampling, complicated by mosaicism for 45, X0\/46, XX\/47, XXX","volume":"12","author":"Pandelache","year":"2021","journal-title":"Genes (Basel)"},{"key":"B373","doi-asserted-by":"publisher","first-page":"1979","DOI":"10.1007\/s00277-012-1488-0","article-title":"Severe pernicious anemia with distinct cytogenetic and flow cytometric aberrations mimicking myelodysplastic syndrome","volume":"91","author":"Parmentier","year":"2012","journal-title":"Ann. Hematol."},{"key":"B374","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/ng1194-229","article-title":"Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE","volume":"8","author":"Parrish","year":"1994","journal-title":"Nat. Genet."},{"key":"B375","doi-asserted-by":"publisher","first-page":"2273","DOI":"10.1099\/0022-1317-67-10-2273","article-title":"Chromosome damage induced by herpes simplex virus type 1 in early infection","volume":"67","author":"Peat","year":"1986","journal-title":"J. Gen. Virol."},{"key":"B376","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000132272","article-title":"DAPI-inducible common fragile sites","volume":"42","author":"Pelliccia","year":"1986","journal-title":"Cytogenet. Cell Genet."},{"key":"B377","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1159\/000138885","article-title":"Replication timing of two human common fragile sites: FRA1H and FRA2G","volume":"121","author":"Pelliccia","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"B378","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1002\/ajmg.1320210413","article-title":"A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation","volume":"21","author":"Pembrey","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"B379","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<176::AID-AJMG30>3.0.CO;2-I","article-title":"Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families","volume":"64","author":"Perroni","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"B380","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1111\/j.1399-0004.1986.tb01229.x","article-title":"Population cytogenetics of autosomal fragile sites","volume":"29","author":"Petit","year":"1986","journal-title":"Clin. Genet."},{"key":"B381","first-page":"424","article-title":"Interstitial telomere DNA sequences are not detectable at breaking sites of classical heritable fragile sites","volume":"99","author":"Petit","year":"1997","journal-title":"Hum. Genet."},{"key":"B382","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-i","article-title":"Absence of expression of the FMR-1 gene in fragile X syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell"},{"key":"B383","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/s0093-691x(98)00004-1","article-title":"Cytogenetics of three breeds of river buffalo (Bubalus bubalis L.), with evidence of a fragile site on the X chromosome","volume":"49","author":"Pires","year":"1998","journal-title":"Theriogenology"},{"key":"B384","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1083\/jcb.200705126","article-title":"Werner syndrome helicase activity is essential in maintaining fragile site stability","volume":"180","author":"Pirzio","year":"2008","journal-title":"J. Cell Biol."},{"key":"B385","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1002\/1096-8628(20010615)101:2<106::aid-ajmg1339>3.0.co;2-z","article-title":"Bends in human mitotic metaphase chromosomes revisited: 15q11-13 is the most frequent non-random autosomal bend in blood cultures","volume":"101","author":"Plaja","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"B386","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.anngen.2004.07.002","article-title":"Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending","volume":"47","author":"Plaja","year":"2004","journal-title":"Ann. Genet."},{"key":"B387","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1007\/s00412-014-0462-0","article-title":"Centromere identity from the DNA point of view","volume":"123","author":"Plohl","year":"2014","journal-title":"Chromosoma"},{"key":"B388","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/BF00278966","article-title":"The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y. IV. Heterogeneity of a normal population","volume":"54","author":"Podugolnikova","year":"1980","journal-title":"Hum. Genet."},{"key":"B389","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/ajmg.1320510428","article-title":"Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro","volume":"51","author":"Pomponi","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"B390","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/gm541","article-title":"Mutation signatures of carcinogen exposure: Genome-wide detection and new opportunities for cancer prevention","volume":"6","author":"Poon","year":"2014","journal-title":"Genome Med."},{"key":"B391","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/0165-4608(89)90084-8","article-title":"Preferential sites for viral integration on mammalian genome","volume":"42","author":"Popescu","year":"1989","journal-title":"Cancer Genet. cytogenet."},{"key":"B392","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1615\/critrevoncog.v5.i2-3.20","article-title":"Chromosome fragility and instability in human cancer","volume":"5","author":"Popescu","year":"1994","journal-title":"Crit. Rev. Oncog."},{"key":"B393","doi-asserted-by":"publisher","first-page":"S183","DOI":"10.1186\/1297-9686-23-S1-S183","article-title":"High-resolution R-banding and localization of fragile sites in Oryctolagus cuniculus","volume":"23","author":"Poulsen","year":"1991","journal-title":"Genet. Sel. Evol."},{"key":"B394","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1007\/s00335-014-9537-8","article-title":"A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics","volume":"25","author":"Prada","year":"2014","journal-title":"Mamm. Genome"},{"key":"B395","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1038\/sj.emboj.7600602","article-title":"Impairment of replication fork progression mediates RNA polII transcription-associated recombination","volume":"24","author":"Prado","year":"2005","journal-title":"EMBO J."},{"key":"B396","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1002\/ajmg.a.31781","article-title":"Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation","author":"Probst","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"B397","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/0022-2836(86)90224-x","article-title":"Sequence relationships of three human satellite DNAs","volume":"187","author":"Prosser","year":"1986","journal-title":"J. Mol. Biol."},{"key":"B398","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1002\/gcc.20591","article-title":"Stably transfected common fragile site sequences exhibit instability at ectopic sites","volume":"47","author":"Ragland","year":"2008","journal-title":"Genes Chromosom. Cancer"},{"key":"B399","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1093\/nar\/gkq935","article-title":"Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats","volume":"39","author":"Reddy","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"B400","doi-asserted-by":"publisher","first-page":"10473","DOI":"10.1093\/nar\/gku658","article-title":"Processing of double-R-loops in (CAG)\u00b7(CTG) and C9orf72 (GGGGCC)\u00b7(GGCCCC) repeats causes instability","volume":"42","author":"Reddy","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"B401","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/0165-7992(87)90059-5","article-title":"Folate- and deoxyuridine-sensitive chromatid breakage may result from DNA repair during G2","volume":"192","author":"Reidy","year":"1987","journal-title":"Mutat. Res."},{"key":"B402","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1038\/ncb1206-1313","article-title":"DNA replication timing: Random thoughts about origin firing","volume":"8","author":"Rhind","year":"2006","journal-title":"Nat. Cell Biol."},{"key":"B403","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1111\/j.1365-2788.1981.tb00115.x","article-title":"Fragile X-linked mental retardation: The martin-bell syndrome","volume":"25","author":"Richards","year":"1981","journal-title":"J. Ment. Defic. Res."},{"key":"B404","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1016\/s0168-9525(01)02303-4","article-title":"Fragile and unstable chromosomes in cancer: Causes and consequences","volume":"17","author":"Richards","year":"2001","journal-title":"Trends Genet."},{"key":"B405","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1159\/000245910","article-title":"Fragile sites in domestic animal chromosomes: Molecular insights and challenges","volume":"126","author":"Riggs","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"B406","doi-asserted-by":"publisher","first-page":"2115","DOI":"10.1093\/hmg\/3.12.2115","article-title":"The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal xqter","volume":"3","author":"Ritchie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"B407","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.cell.2013.09.011","article-title":"Mapping human epigenomes","volume":"155","author":"Rivera","year":"2013","journal-title":"Cell"},{"key":"B408","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/BF00285882","article-title":"Multiple common fragile sites are expressed in the genome of the laboratory rat","volume":"96","author":"Robinson","year":"1987","journal-title":"Chromosoma"},{"key":"B409","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1007\/BF00291608","article-title":"Studies on three rare fragile sites. 2q13, 12q13, and 17p12 segregating in one family","volume":"73","author":"Romain","year":"1986","journal-title":"Hum. Genet."},{"key":"B410","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1007\/BF00280482","article-title":"In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes","volume":"74","author":"Rosin","year":"1986","journal-title":"Hum. Genet."},{"key":"B411","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1056\/NEJM199112123252401","article-title":"Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation","volume":"325","author":"Rousseau","year":"","journal-title":"N. Engl. J. Med."},{"key":"B412","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1136\/jmg.28.12.830","article-title":"Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation","volume":"28","author":"Rousseau","year":"","journal-title":"J. Med. Genet."},{"key":"B413","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1093\/hmg\/3.6.927","article-title":"No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations","volume":"3","author":"Rousseau","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"B414","doi-asserted-by":"publisher","first-page":"6872","DOI":"10.1038\/sj.onc.1207809","article-title":"Characterization of a conserved aphidicolin-sensitive common fragile site at human 4q22 and mouse 6C1: Possible association with an inherited disease and cancer","volume":"23","author":"Rozier","year":"2004","journal-title":"Oncogene"},{"key":"B415","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1023\/a:1014261909613","article-title":"Fragile sites in human and Macaca fascicularis chromosomes are breakpoints in chromosome evolution","volume":"10","author":"Ruiz-Herrera","year":"2002","journal-title":"Chromosome Res."},{"key":"B416","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1159\/000080822","article-title":"Evolutionary breakpoints are co-localized with fragile sites and intrachromosomal telomeric sequences in primates","volume":"108","author":"Ruiz-Herrera","year":"2005","journal-title":"Cytogenet. Genome Res."},{"key":"B417","doi-asserted-by":"publisher","first-page":"R115","DOI":"10.1186\/gb-2006-7-12-r115","article-title":"Is mammalian chromosomal evolution driven by regions of genome fragility?","volume":"7","author":"Ruiz-Herrera","year":"2006","journal-title":"Genome Biol."},{"key":"B418","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s10577-018-9599-7","article-title":"Ribosomal DNA instability and genome adaptability","volume":"27","author":"Salim","year":"2019","journal-title":"Chromosome Res."},{"key":"B419","doi-asserted-by":"publisher","first-page":"e1007006","DOI":"10.1371\/journal.pgen.1007006","article-title":"DNA replication stress restricts ribosomal DNA copy number","volume":"13","author":"Salim","year":"2017","journal-title":"PLoS Genet."},{"key":"B420","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1038\/ng1197-298","article-title":"Trinucleotide repeats affect DNA replication in vivo","volume":"17","author":"Samadashwily","year":"1997","journal-title":"Nat. Genet."},{"key":"B421","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1002\/ajmg.1320460213","article-title":"Segregation analysis of rare autosomal folate sensitive fragile sites","volume":"46","author":"Samadder","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"B422","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/s0003-3995(03)00013-3","article-title":"Concurrence of fragile X and klinefelter syndromes: Report of a new case of paternal nondisjunction","volume":"46","author":"Santos","year":"2003","journal-title":"Ann. Genet."},{"key":"B423","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/nrg3961","article-title":"R loops: New modulators of genome dynamics and function","volume":"16","author":"Santos-Pereira","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"B424","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1002\/ajmg.1320230141","article-title":"Mouse chromosome fragility","volume":"23","author":"Sanz","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B425","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.ygeno.2003.12.017","article-title":"European Collaborative Consortium for the Study of ADLTEFolate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein","volume":"84","author":"Sarafidou","year":"2004","journal-title":"Genomics"},{"key":"B426","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ceb.2016.03.017","article-title":"The complex nature of fragile site plasticity and its importance in cancer","volume":"40","author":"Sarni","year":"2016","journal-title":"Curr. Opin. Cell Biol."},{"key":"B427","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1093\/hmg\/10.21.2425","article-title":"Centrosome disorganization in fibroblast cultures derived from R6\/2 Huntington\u2019s disease (HD) transgenic mice and HD patients","volume":"10","author":"Sathasivam","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B428","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/BF00330707","article-title":"The behaviour of fragile X and other aberrations during recovery from low folate conditions","volume":"96","author":"Savage","year":"1988","journal-title":"Chromosoma"},{"key":"B429","doi-asserted-by":"publisher","first-page":"4561","DOI":"10.1007\/s00018-014-1723-z","article-title":"Molecular characterization of common fragile sites as a strategy to discover cancer susceptibility genes","volume":"71","author":"Savelyeva","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"B430","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.canlet.2005.08.033","article-title":"Low-frequency common fragile sites: Link to neuropsychiatric disorders?","volume":"232","author":"Savelyeva","year":"2006","journal-title":"Cancer Lett."},{"key":"B431","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1002\/ajmg.1320560218","article-title":"Chromosome instability in ICF syndrome: Formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization","volume":"56","author":"Sawyer","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B432","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/0165-4608(95)00020-p","article-title":"Enhanced expression of common fragile site with occupational exposure to pesticides","volume":"82","author":"Sbrana","year":"1995","journal-title":"Cancer Genet. cytogenet."},{"key":"B433","first-page":"628","article-title":"Heritable fragile sites and lymphocyte culture medium containing BrdU","volume":"32","author":"Scheres","year":"1980","journal-title":"Am. J. Hum. Genet."},{"key":"B434","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1136\/jmg.14.6.438","article-title":"Auf der Maur, P., Moser, HPartial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings","volume":"14","author":"Schinzel","year":"1977","journal-title":"J. Med. Genet."},{"key":"B435","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1007\/BF00278689","article-title":"Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome no. 9","volume":"7","author":"Schmid","year":"1969","journal-title":"Humangenetik"},{"key":"B436","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1007\/BF00388461","article-title":"Evolutionary conservation of fragile sites induced by 5-azacytidine and 5-azadeoxycytidine in man, gorilla, and chimpanzee","volume":"71","author":"Schmid","year":"1985","journal-title":"Hum. Genet."},{"key":"B437","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1007\/BF00278788","article-title":"The fragile site (16) (q22). I. Induction by AT-specific DNA-ligands and population frequency","volume":"74","author":"Schmid","year":"1986","journal-title":"Hum. Genet."},{"key":"B438","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/BF00272446","article-title":"The fragile site (16)(q22). II. Sister chromatid exchanges","volume":"76","author":"Schmid","year":"1987","journal-title":"Hum. Genet."},{"key":"B439","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1002\/ajmg.1320230143","article-title":"Differential expression of fragile site Xq27 in cultured fibroblasts from hemizygotes and heterozygotes and its implications for prenatal diagnosis","volume":"23","author":"Schmidt","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B440","doi-asserted-by":"publisher","first-page":"307","DOI":"10.3892\/ijo_00000501","article-title":"New aspects on chromosomal instability: Chromosomal break-points in fanconi anemia patients co-localize on the molecular level with fragile sites","volume":"36","author":"Schoder","year":"2010","journal-title":"Int. J. Oncol."},{"key":"B441","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.canlet.2005.07.039","article-title":"The molecular basis of common and rare fragile sites","volume":"232","author":"Schwartz","year":"2006","journal-title":"Cancer Lett."},{"key":"B442","first-page":"988","article-title":"The 47, XXX syndrome in a family with the fragile X chromosome syndrome","volume":"124","author":"Seemanov\u00e1","year":"1985","journal-title":"Cas. Lek. Cesk."},{"key":"B443","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1159\/000133379","article-title":"Induction of a BrdU-enhanceable fragile site-like lesion and sister chromatid exchanges at 11q23.1 in EBV-transformed lymphoblastoid cell lines","volume":"61","author":"Seki","year":"1992","journal-title":"Cytogenet. Cell Genet."},{"key":"B444","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.cell.2009.06.021","article-title":"Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication","volume":"138","author":"Sfeir","year":"2009","journal-title":"Cell"},{"key":"B445","doi-asserted-by":"publisher","first-page":"1149","DOI":"10.1093\/nar\/gkp1131","article-title":"DNA structure and the Werner protein modulate human DNA polymerase delta-dependent replication dynamics within the common fragile site FRA16D","volume":"38","author":"Shah","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"B446","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1002\/ajmg.1320380251","article-title":"Cytogenetic diagnosis of the fragile X syndrome: Efficiency, utilization, and trends","volume":"38","author":"Shapiro","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B447","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1002\/ajmg.1320510443","article-title":"Asymmetry of methylation with FMR-1 full mutation in two 45, X\/46, XX mosaic females associated with normal intellect","volume":"51","author":"Shapiro","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"B448","first-page":"3","article-title":"The fragile X syndrome-clinical overview","volume":"368","author":"Shapiro","year":"1991","journal-title":"Prog. Clin. Biol. Res."},{"key":"B449","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/sj.ejhg.5200881","article-title":"A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation","volume":"10","author":"Shaw","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"B450","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/BF00283929","article-title":"Segregation analysis of rare autosomal fragile sites","volume":"72","author":"Sherman","year":"1986","journal-title":"Hum. Genet."},{"key":"B451","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1186\/1423-0127-16-107","article-title":"Human cytomegalovirus UL76 induces chromosome aberrations","volume":"16","author":"Siew","year":"2009","journal-title":"J. Biomed. Sci."},{"key":"B452","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/(sici)1096-8628(19970531)74:3<331::aid-ajmg16>3.0.co;2-p","article-title":"Additional clinical and cytogenetic findings associated with Rett syndrome","volume":"74","author":"Simonic","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"B453","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1111\/j.1399-0004.1985.tb00374.x","article-title":"Heritable fragility at 11q13 and 12q13","volume":"28","author":"Smeets","year":"1985","journal-title":"Clin. Genet."},{"key":"B454","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1093\/hmg\/4.11.2103","article-title":"Normal phenotype in two brothers with a full FMR1 mutation","volume":"4","author":"Smeets","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"B455","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/gcc.2870050209","article-title":"Viral integration and fragile sites in human papillomavirus-immortalized human keratinocyte cell lines","volume":"5","author":"Smith","year":"1992","journal-title":"Genes Chromosom. Cancer"},{"key":"B456","doi-asserted-by":"publisher","first-page":"447","DOI":"10.2174\/138920210793176001","article-title":"Genomic and epigenomic instability, fragile sites, schizophrenia and autism","volume":"11","author":"Smith","year":"2010","journal-title":"Curr. Genomics"},{"key":"B457","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease","volume":"51","author":"Sone","year":"2019","journal-title":"Nat. Genet."},{"key":"B458","doi-asserted-by":"publisher","first-page":"2691","DOI":"10.1093\/nar\/12.6.2691","article-title":"Compact structure of ribosomal chromatin in Xenopus laevis","volume":"12","author":"Spadafora","year":"1984","journal-title":"Nucleic Acids Res."},{"key":"B459","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/0022-2836(85)90394-8","article-title":"Different conformations of ribosomal DNA in active and inactive chromatin in Xenopus laevis","volume":"186","author":"Spadafora","year":"1985","journal-title":"J. Mol. Biol."},{"key":"B460","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1111\/j.1432-1033.1979.tb02053.x","article-title":"Rearrangement of chromatin structure induced by increasing ionic strength and temperature","volume":"100","author":"Spadafora","year":"1979","journal-title":"Eur. J. Biochem."},{"key":"B461","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/s0308-2261(21)00113-2","article-title":"Megaloblastic anaemia produced by drugs","volume":"5","author":"Stebbins","year":"1976","journal-title":"Clin. Haematol."},{"key":"B462","first-page":"235","article-title":"Drug-induced megaloblastic anemias","volume":"10","author":"Stebbins","year":"1973","journal-title":"Semin. Hematol."},{"key":"B463","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1111\/j.1399-0004.2008.01050.x","article-title":"Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4","volume":"74","author":"Steichen-Gersdorf","year":"2008","journal-title":"Clin. Genet."},{"key":"B464","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/gcc.10061","article-title":"Direct correlation between FRA3B expression and cigarette smoking","volume":"34","author":"Stein","year":"2002","journal-title":"Genes Chromosom. Cancer"},{"key":"B465","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1007\/BF00274209","article-title":"On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression","volume":"61","author":"Steinbach","year":"1982","journal-title":"Hum. Genet."},{"key":"B466","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1002\/ajmg.a.34122","article-title":"Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion","author":"Stettner","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"B467","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1002\/ajmg.1320460220","article-title":"Bromodeoxyuridine induces chromosomal fragile sites in the canine genome","volume":"46","author":"Stone","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"B468","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1002\/ajmg.1320400220","article-title":"Chromosomal fragile site expression in dogs: II. Expression in boxer dogs with mast cell tumors","volume":"40","author":"Stone","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"B469","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/0165-4608(93)90221-7","article-title":"Folate-sensitive and aphidicolin-inducible fragile sites are expressed in the genome of the domestic cat","volume":"65","author":"Stone","year":"1993","journal-title":"Cancer Genet. cytogenet."},{"key":"B470","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1023\/a:1009287111661","article-title":"Somatic pairing between subtelomeric chromosome regions: Implications for human genetic disease?","volume":"7","author":"Stout","year":"1999","journal-title":"Chromosome Res."},{"key":"B471","doi-asserted-by":"publisher","first-page":"9096","DOI":"10.1158\/0008-5472.CAN-09-2680","article-title":"Human rRNA gene clusters are recombinational hotspots in cancer","volume":"69","author":"Stults","year":"2009","journal-title":"Cancer Res."},{"key":"B472","first-page":"407","article-title":"Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE","volume":"59","author":"Subramanian","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"B473","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1002\/ajmg.1320230133","article-title":"Effects of nucleotides on expression of the folate sensitive fragile sites","volume":"23","author":"Sutherland","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B474","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1111\/j.1399-0004.1990.tb03498.x","article-title":"The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X","volume":"37","author":"Sutherland","year":"1990","journal-title":"Clin. Genet."},{"key":"B475","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1093\/hmg\/1.2.111","article-title":"Characterisation of a new rare fragile site easily confused with the fragile X","volume":"1","author":"Sutherland","year":"1992","journal-title":"Hum. Mol. Genet."},{"key":"B476","first-page":"159","article-title":"Unusual behaviour of a human autosome having two rare folate sensitive fragile sites","volume":"36","author":"Sutherland","year":"1993","journal-title":"Ann. Genet."},{"key":"B477","first-page":"542","article-title":"Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression","volume":"32","author":"Sutherland","year":"1980","journal-title":"Am. J. Hum. Genet."},{"key":"B478","first-page":"432","article-title":"Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23","volume":"35","author":"Sutherland","year":"1983","journal-title":"Am. J. Hum. Genet."},{"key":"B570","first-page":"110","article-title":"Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22, and 17p12","volume":"36","author":"Sutherland","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"B479","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/ajmg.1320220234","article-title":"Excess thymidine induces folate sensitive fragile sites","volume":"22","author":"Sutherland","year":"","journal-title":"Am. J. Med. Genet."},{"key":"B480","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/BF00293031","article-title":"New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine","volume":"69","author":"Sutherland","year":"","journal-title":"Hum. Genet."},{"key":"B481","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/0140-6736(91)90426-p","article-title":"Hereditary unstable DNA: A new explanation for some old genetic questions?","volume":"338","author":"Sutherland","year":"1991","journal-title":"Lancet"},{"key":"B482","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1126\/science.877551","article-title":"Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium","volume":"197","author":"Sutherland","year":"1977","journal-title":"Science"},{"key":"B483","first-page":"136","article-title":"Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics","volume":"31","author":"Sutherland","year":"1979","journal-title":"Am. J. Hum. Genet."},{"key":"B484","first-page":"946","article-title":"Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal","volume":"33","author":"Sutherland","year":"1981","journal-title":"Am. J. Hum. Genet."},{"key":"B485","first-page":"452","article-title":"Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites","volume":"34","author":"Sutherland","year":"1982","journal-title":"Am. J. Hum. Genet."},{"key":"B486","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/s0074-7696(08)62336-0","article-title":"The fragile X chromosome","volume":"81","author":"Sutherland","year":"1983","journal-title":"Int. Rev. Cytol."},{"key":"B487","doi-asserted-by":"publisher","first-page":"dsab021","DOI":"10.1093\/dnares\/dsab021","article-title":"The time is ripe to investigate human centromeres by long-read sequencing","volume":"28","author":"Suzuki","year":"2021","journal-title":"DNA Res."},{"key":"B488","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1002\/humu.21284","article-title":"Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: Benign or pathological?","volume":"31","author":"Szafranski","year":"2010","journal-title":"Hum. Mutat."},{"key":"B489","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/j.1399-0004.1988.tb03417.x","article-title":"A new rare heritable fragile site at 8q24.1 found in a Japanese population","volume":"33","author":"Takahashi","year":"1988","journal-title":"Clin. Genet."},{"key":"B490","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1101\/gr.275351.121","article-title":"The genetics and epigenetics of satellite centromeres","volume":"32","author":"Talbert","year":"2022","journal-title":"Genome Res."},{"key":"B491","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1083\/jcb.200403128","article-title":"The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres","volume":"167","author":"Tam","year":"2004","journal-title":"J. Cell Biol."},{"key":"B492","doi-asserted-by":"publisher","first-page":"1973","DOI":"10.1093\/hmg\/2.11.1973","article-title":"An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype","volume":"2","author":"Tarleton","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"B493","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/(sici)1096-8628(20000313)91:2<144::aid-ajmg14>3.0.co;2-v","article-title":"Clinical involvement and protein expression in individuals with the FMR1 premutation","volume":"91","author":"Tassone","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"B494","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1136\/jmg.31.1.76","article-title":"Identification by molecular diagnosis of mosaic Turner\u2019s syndrome in an obligate carrier female for fragile X syndrome","volume":"31","author":"Tejada","year":"1994","journal-title":"J. Med. Genet."},{"key":"B495","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1159\/000132334","article-title":"Folate-sensitive fragile sites on the X-chromosome heterochromatin of the Indian mole rat, Nesokia indica","volume":"44","author":"Tewari","year":"1987","journal-title":"Cytogenet. Cell Genet."},{"key":"B496","doi-asserted-by":"publisher","first-page":"4309","DOI":"10.3390\/ijms22094309","article-title":"Sequence, chromatin and evolution of satellite DNA","volume":"22","author":"Thakur","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"B497","doi-asserted-by":"publisher","first-page":"60","DOI":"10.2174\/1389202916666150114223205","article-title":"DNA secondary structure at chromosomal fragile sites in human disease","volume":"16","author":"Thys","year":"2015","journal-title":"Curr. Genomics"},{"key":"B498","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1002\/ajmg.1320090313","article-title":"Marker X chromosome induction in fibroblasts by FUdR","volume":"9","author":"Tommerup","year":"1981","journal-title":"Am. J. Med. Genet."},{"key":"B499","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1007\/BF00283696","article-title":"Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes","volume":"81","author":"Tommerup","year":"1989","journal-title":"Hum. Genet."},{"key":"B500","doi-asserted-by":"publisher","first-page":"a004010","DOI":"10.1101\/mcs.a004010","article-title":"Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor","volume":"5","author":"Tootleman","year":"2019","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"B501","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/s41586-020-2579-z","article-title":"Genome-wide detection of tandem DNA repeats that are expanded in autism","volume":"586","author":"Trost","year":"2020","journal-title":"Nature"},{"key":"B502","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1002\/ajmg.1320510431","article-title":"Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region","volume":"51","author":"Trottier","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"B503","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/1756-8935-7-33","article-title":"Chromatin accessibility: A window into the genome","volume":"7","author":"Tsompana","year":"2014","journal-title":"Epigenetics Chromatin"},{"key":"B504","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1007\/BF00200900","article-title":"Induction of distamycin A-inducible rare fragile sites and increased sister chromatid exchanges at the fragile site","volume":"87","author":"Tsuji","year":"1991","journal-title":"Hum. Genet."},{"key":"B505","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/j.cell.2018.07.011","article-title":"Dual roles of poly(dA:dT) tracts in replication initiation and fork collapse","volume":"174","author":"Tubbs","year":"2018","journal-title":"Cell"},{"key":"B506","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1159\/000015590","article-title":"DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients","volume":"89","author":"Tuck-Muller","year":"2000","journal-title":"Cytogenet. Cell Genet."},{"key":"B507","doi-asserted-by":"publisher","first-page":"1315","DOI":"10.1038\/ncb1984","article-title":"Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription","volume":"11","author":"Tuduri","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"B508","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1101\/gr.9.1.44","article-title":"Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q","volume":"9","author":"Tunnacliffe","year":"1999","journal-title":"Genome Res."},{"key":"B509","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1002\/ajmg.1320320331","article-title":"Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies","volume":"32","author":"Turleau","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"B510","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1056\/NEJM198009183031202","article-title":"Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27)","volume":"303","author":"Turner","year":"","journal-title":"N. Engl. J. Med."},{"key":"B511","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/s0022-3476(80)80552-x","article-title":"X-linked mental retardation, macro-orchidism, and the Xq27 fragile site","volume":"96","author":"Turner","year":"","journal-title":"J. Pediatr."},{"key":"B512","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1002\/ajmg.1320230148","article-title":"The fragile X in cattle","volume":"23","author":"Uchida","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"B513","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1159\/000444868","article-title":"Condensin in chromatid cohesion and segregation","volume":"147","author":"Uchiyama","year":"2015","journal-title":"Cytogenet. Genome Res."},{"key":"B514","doi-asserted-by":"publisher","first-page":"4202","DOI":"10.1093\/nar\/23.20.4202","article-title":"CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro","volume":"23","author":"Usdin","year":"1995","journal-title":"Nucleic Acids Res."},{"key":"B515","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1080\/15592294.2019.1649930","article-title":"Human rDNA copy number is unstable in metastatic breast cancers","volume":"15","author":"Valori","year":"2020","journal-title":"Epigenetics"},{"key":"B516","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1111\/cge.12979","article-title":"Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2","volume":"92","author":"van den Boogaard","year":"2017","journal-title":"Clin. Genet."},{"key":"B517","first-page":"88","article-title":"A practical metaphase marker of the inactive X chromosome","volume":"39","author":"Van Dyke","year":"1986","journal-title":"Am. J. Hum. Genet."},{"key":"B518","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/BF00284715","article-title":"The human inactivated X chromosome folds in early metaphase, prometaphase, and prophase","volume":"77","author":"Van Dyke","year":"1987","journal-title":"Hum. Genet."},{"key":"B519","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.ceb.2017.03.004","article-title":"Nucleolar reorganization in response to rDNA damage","volume":"46","author":"van Sluis","year":"2017","journal-title":"Curr. Opin. Cell Biol."},{"key":"B520","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/j.tig.2019.07.001","article-title":"Nucleolar DNA double-strand break responses underpinning rDNA genomic stability","volume":"35","author":"van Sluis","year":"2019","journal-title":"Trends Genet."},{"key":"B521","doi-asserted-by":"publisher","first-page":"2306","DOI":"10.1002\/ajmg.a.37149","article-title":"Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome","author":"Verdyck","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"B522","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-h","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"key":"B523","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1007\/s004120050261","article-title":"Expression of three rare fragile sites: Chromosomal truncation, amplification of distal segment and telomeric renewal","volume":"106","author":"Villa","year":"1997","journal-title":"Chromosoma"},{"key":"B524","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/349624a0","article-title":"Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis","volume":"349","author":"Vincent","year":"1991","journal-title":"Nature"},{"key":"B525","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1007\/BF00196228","article-title":"Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved \u201cchromatin folding code","volume":"84","author":"Vogt","year":"1990","journal-title":"Hum. Genet."},{"key":"B526","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1007\/BF00201849","article-title":"Homozygous condition for a BrdU-requiring fragile site on chromosome 12","volume":"86","author":"Voiculescu","year":"1991","journal-title":"Hum. Genet."},{"key":"B527","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1093\/bioinformatics\/btac018","article-title":"StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps","volume":"38","author":"Vollger","year":"2022","journal-title":"Bioinformatics"},{"key":"B528","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1007\/BF00284923","article-title":"Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23","volume":"76","author":"Voullaire","year":"1987","journal-title":"Hum. Genet."},{"key":"B529","doi-asserted-by":"publisher","first-page":"6191","DOI":"10.1073\/pnas.88.14.6191","article-title":"The Barr body is a looped X chromosome formed by telomere association","volume":"88","author":"Walker","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B530","doi-asserted-by":"publisher","first-page":"22937","DOI":"10.1074\/jbc.271.38.22937","article-title":"Methylation of expanded CCG triplet repeat DNA from fragile X syndrome patients enhances nucleosome exclusion","volume":"271","author":"Wang","year":"1996","journal-title":"J. Biol. Chem."},{"key":"B531","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1006\/jmbi.1996.0593","article-title":"Long CCG triplet repeat blocks exclude nucleosomes: A possible mechanism for the nature of fragile sites in chromosomes","volume":"263","author":"Wang","year":"1996","journal-title":"J. Mol. Biol."},{"key":"B532","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1093\/hmg\/8.3.431","article-title":"Allele-specific late replication and fragility of the most active common fragile site, FRA3B","volume":"8","author":"Wang","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"B533","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/s41586-022-04601-8","article-title":"Human pangenome reference ConsortiumThe human pangenome project: A global resource to map genomic diversity","volume":"604","author":"Wang","year":"2022","journal-title":"Nature"},{"key":"B534","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1006\/geno.1996.0187","article-title":"Characterization of a chromosome-specific chimpanzee alpha satellite subset: Evolutionary relationship to subsets on human chromosomes","volume":"33","author":"Warburton","year":"1996","journal-title":"Genomics"},{"key":"B535","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s10577-018-9594-z","article-title":"Keeping ribosomal DNA intact: A repeating challenge","volume":"27","author":"Warmerdam","year":"2019","journal-title":"Chromosome Res."},{"key":"B536","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1007\/BF01535636","article-title":"Expression of fragile X chromosome in human-rodent somatic cell hybrids","volume":"10","author":"Warren","year":"1984","journal-title":"Somat. Cell Mol. Genet."},{"key":"B537","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1126\/science.3603029","article-title":"The fragile X site in somatic cell hybrids: An approach for molecular cloning of fragile sites","volume":"237","author":"Warren","year":"1987","journal-title":"Science"},{"key":"B538","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1111\/j.1399-0004.1984.tb00801.x","article-title":"Fragile 22q13 segregating in a family","volume":"26","author":"Webb","year":"1984","journal-title":"Clin. Genet."},{"key":"B539","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1016\/s0140-6736(81)92838-5","article-title":"Prenatal diagnosis of Martin-Bell syndrome associated with fragile site at Xq27-28","volume":"2","author":"Webb","year":"1981","journal-title":"Lancet"},{"key":"B540","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1002\/ajmg.1320430633","article-title":"Delayed replication of Xq27 in individuals with the fragile X syndrome","volume":"43","author":"Webb","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"B541","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/0921-8734(94)90006-x","article-title":"Correlation between senescence and DNA repair in cells from young and old individuals and in premature aging syndromes","volume":"316","author":"Weirich-Schwaiger","year":"1994","journal-title":"Mutat. Res."},{"key":"B542","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/0888-7543(90)90257-u","article-title":"Telomere-related sequences at interstitial sites in the human genome","volume":"8","author":"Wells","year":"1990","journal-title":"Genomics"},{"key":"B543","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1002\/ajmg.1320260419","article-title":"Increased sister chromatid exchange frequency at Xq27 site in affected fragile X males","volume":"26","author":"Wenger","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"B544","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<60::AID-AJMG13>3.0.CO;2-O","article-title":"Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy","volume":"66","author":"Wenger","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"B545","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.ajhg.2010.06.017","article-title":"Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability","volume":"87","author":"Whibley","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"B546","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1002\/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V","article-title":"Genetic variation in ICF syndrome: Evidence for genetic heterogeneity","volume":"16","author":"Wijmenga","year":"2000","journal-title":"Hum. Mutat."},{"key":"B547","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1093\/hmg\/5.2.187","article-title":"FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: Direct evidence for the coincidence of viral integration sites and fragile sites","volume":"5","author":"Wilke","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"B548","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1086\/510800","article-title":"CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1","volume":"80","author":"Winnepenninckx","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"B549","first-page":"299","article-title":"A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome","volume":"51","author":"W\u00f6hrle","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"B550","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1097\/00043426-199605000-00013","article-title":"Transient 7q- in association with megaloblastic anemia due to dietary folate and vitamin B12 deficiency","volume":"18","author":"Wollman","year":"1996","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"B551","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1159\/000132677","article-title":"Fragile sites, telomeric DNA sequences, B chromosomes, and DNA content in raccoon dogs, Nyctereutes procyonoides, with comparative notes on foxes, coyote, wolf, and raccoon","volume":"49","author":"Wurster-Hill","year":"1988","journal-title":"Cytogenet. Cell Genet."},{"key":"B552","doi-asserted-by":"publisher","first-page":"e1006771","DOI":"10.1371\/journal.pgen.1006771","article-title":"Ribosomal DNA copy number loss and sequence variation in cancer","volume":"13","author":"Xu","year":"2017","journal-title":"PLoS Genet."},{"key":"B553","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1266\/ggs.75.149","article-title":"A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier","volume":"75","author":"Yamauchi","year":"2000","journal-title":"Genes Genet. Syst."},{"key":"B554","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/0034-5288(93)90086-u","article-title":"Folate sensitive common fragile sites in chromosomes of the domestic pig (Sus scrofa)","volume":"55","author":"Yang","year":"1993","journal-title":"Res. Vet. Sci."},{"key":"B555","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1038\/ncb2773","article-title":"MUS81 promotes common fragile site expression","volume":"15","author":"Ying","year":"2013","journal-title":"Nat. Cell Biol."},{"key":"B556","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1126\/science.252.5009.1179","article-title":"Fragile X genotype characterized by an unstable region of DNA","volume":"252","author":"Yu","year":"1991","journal-title":"Science"},{"key":"B557","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/s0092-8674(00)81875-9","article-title":"Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat","volume":"88","author":"Yu","year":"1997","journal-title":"Cell"},{"key":"B558","doi-asserted-by":"publisher","first-page":"2940","DOI":"10.1093\/hmg\/ddu006","article-title":"Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome","volume":"23","author":"Yudkin","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"B559","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1126\/science.6239375","article-title":"Constitutive fragile sites and cancer","volume":"226","author":"Yunis","year":"1984","journal-title":"Science"},{"key":"B560","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1126\/science.174.4015.1200","article-title":"Heterochromatin, satellite DNA, and cell function. Structural DNA of eucaryotes may support and protect genes and aid in speciation","volume":"174","author":"Yunis","year":"1971","journal-title":"Science"},{"key":"B561","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1159\/000100408","article-title":"A new heritable fragile site at 15q13 in a three-generation family","volume":"116","author":"Zamani","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"B562","doi-asserted-by":"publisher","first-page":"10055","DOI":"10.1093\/nar\/gkv1008","article-title":"Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8\u00b7(GGCCCC)8 repeat: Effect of CpG methylation","volume":"43","author":"Zamiri","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"B563","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1016\/j.bbagen.2018.03.001","article-title":"Stress-induced acidification may contribute to formation of unusual structures in C9orf72-repeats","volume":"1862","author":"Zamiri","year":"2018","journal-title":"Biochim. Biophys. Acta. Gen. Subj."},{"key":"B564","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.molcel.2007.06.012","article-title":"An AT-rich sequence in human common fragile site FRA16D causes fork stalling and chromosome breakage in S. cerevisiae","volume":"27","author":"Zhang","year":"2007","journal-title":"Mol. Cell"},{"key":"B565","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1002\/gcc.22706","article-title":"The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene","volume":"58","author":"Zheglo","year":"2019","journal-title":"Genes Chromosom. Cancer"},{"key":"B571","first-page":"351","article-title":"Fragile X gene instability: Anchoring AGGs and linked microsatellites","volume":"57","author":"Zhong","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"B566","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1002\/jcb.30074","article-title":"R-loops mediate transcription-associated formation of human rDNA secondary constrictions","volume":"122","author":"Zhou","year":"2021","journal-title":"J. Cell. Biochem."},{"key":"B567","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/0165-4608(94)90107-4","article-title":"Chromosomal organization of viral integration sites in human papillomavirus-immortalized human keratinocyte cell lines","volume":"72","author":"Zimonjic","year":"1994","journal-title":"Cancer Genet. cytogenet."},{"key":"B568","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1093\/carcin\/18.5.869","article-title":"Genetic and epigenetic aspects of DNA methylation on genome expression, evolution, mutation and carcinogenesis","volume":"18","author":"Zingg","year":"1997","journal-title":"Carcinogenesis"},{"key":"B569","doi-asserted-by":"publisher","first-page":"7143","DOI":"10.1128\/MCB.23.20.7143-7151.2003","article-title":"Molecular basis for expression of common and rare fragile sites","volume":"23","author":"Zlotorynski","year":"2003","journal-title":"Mol. Cell. Biol."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.985975\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T12:32:53Z","timestamp":1668688373000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.985975\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,17]]},"references-count":571,"alternative-id":["10.3389\/fgene.2022.985975"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.985975","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,17]]},"article-number":"985975"}}