{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:53:31Z","timestamp":1790855611706,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T00:00:00Z","timestamp":1093996800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3243,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,9]]},"DOI":"10.1086\/423624","type":"journal-article","created":{"date-parts":[[2004,8,3]],"date-time":"2004-08-03T15:48:22Z","timestamp":1091548102000},"page":"410-423","source":"Crossref","is-referenced-by-count":115,"title":["High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene"],"prefix":"10.1016","volume":"75","author":[{"given":"H.","family":"Kehrer-Sawatzki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kluwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Sandig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Wimmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Krammer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Peyrl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.E.","family":"Jenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hansmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.-F.","family":"Mautner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/423624_bib7","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.10254","article-title":"Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs","volume":"22","author":"Abeysinghe","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1086\/423624_bib8","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1086\/376565","article-title":"Mutational mechanisms of Williams-Beuren syndrome deletions","volume":"73","author":"Bayes","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib9","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1086\/379979","article-title":"Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2","volume":"73","author":"Bi","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib10","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1016\/S0960-9822(00)00865-4","article-title":"Long-term potentiation in mice lacking the neural cell adhesion molecule L1","volume":"10","author":"Bliss","year":"2000","journal-title":"Curr Biol"},{"key":"10.1086\/423624_bib11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/hmg\/3.2.223","article-title":"Two autosomal dominant neuropathies result from reciprocal DNA duplication\/deletion of a region on chromosome 17","volume":"3","author":"Chance","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/423624_bib12","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/ng1097-154","article-title":"Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome","volume":"17","author":"Chen","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/423624_bib13","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1","article-title":"Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?","volume":"9","author":"Cnossen","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1086\/423624_bib14","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1086\/374821","article-title":"Elevated risk for MPNST in NF1 microdeletion patients","volume":"72","author":"De Raedt","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib15","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/hmg\/9.1.35","article-title":"NF1 microdeletion breakpoints are clustered at flanking repetitive sequences","volume":"9","author":"Dorschner","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/423624_bib16","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","article-title":"Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome","volume":"64","author":"Edelmann","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib17","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1086\/303085","article-title":"An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium","volume":"67","author":"Eisenbarth","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib18","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0959-4388(96)80076-6","article-title":"The amygdala and emotion","volume":"6","author":"Gallagher","year":"1996","journal-title":"Curr Opin Neurobiol"},{"key":"10.1086\/423624_bib19","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0027-5107(98)00047-5","article-title":"Yeast ARMs (DNA at-risk motifs) can reveal sources of genome instability","volume":"400","author":"Gordenin","year":"1998","journal-title":"Mutat Res"},{"key":"10.1086\/423624_bib20","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1001\/jama.1997.03550010065042","article-title":"The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2","volume":"278","author":"Gutmann","year":"1997","journal-title":"JAMA"},{"key":"10.1086\/423624_bib21","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1136\/adc.64.5.745","article-title":"Recent developments in the diagnosis and management of neurofibromatosis","volume":"64","author":"Huson","year":"1989","journal-title":"Arch Dis Child"},{"key":"10.1086\/423624_bib22","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1146\/annurev.genom.3.032802.120023","article-title":"Molecular mechanisms for genomic disorders","volume":"3","author":"Inoue","year":"2002","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1086\/423624_bib23","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/gcc.10206","article-title":"Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse","volume":"37","author":"Jenne","year":"2003","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1086\/423624_bib24","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1006\/geno.2000.6179","article-title":"A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions","volume":"66","author":"Jenne","year":"2000","journal-title":"Genomics"},{"key":"10.1086\/423624_bib25","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1086\/323043","article-title":"Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions","volume":"69","author":"Jenne","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib26","first-page":"424","article-title":"Deletions spanning the neurofibromatosis I gene: identification and phenotype of five patients","volume":"54","author":"Kayes","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib27","doi-asserted-by":"crossref","first-page":"6348","DOI":"10.1073\/pnas.101132598","article-title":"Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors","volume":"98","author":"Koontz","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/423624_bib28","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/humu.10299","article-title":"Screening of 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene","volume":"23","author":"Kluwe","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1086\/423624_bib29","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/(SICI)1096-8628(1997)73:2<197::AID-AJMG17>3.0.CO;2-P","article-title":"Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata","volume":"73","author":"Leppig","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/423624_bib30","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4","article-title":"Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions","volume":"14","author":"L\u00f3pez Correa","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1086\/423624_bib31","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.1086\/302920","article-title":"Unequal meiotic crossover: a frequent cause of NF1 microdeletions","volume":"66","author":"L\u00f3pez Correa","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib32","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1093\/hmg\/10.13.1387","article-title":"Recombination hotspot in NF1 microdeletion patients","volume":"10","author":"L\u00f3pez Correa","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/423624_bib33","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1086\/346217","article-title":"2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture","volume":"72","author":"Lupski","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib34","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1126\/science.285.5435.1870","article-title":"Long-term potentiation: a decade of progress?","volume":"285","author":"Malenka","year":"1999","journal-title":"Science"},{"key":"10.1086\/423624_bib35","series-title":"The neurofibromatoses: a pathogenetic and clinical overview","first-page":"23","article-title":"Molecular genetics of neurofibromatosis 1","author":"Marchuk","year":"1994"},{"key":"10.1086\/423624_bib36","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ng1292-292","article-title":"Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit","volume":"2","author":"Pentao","year":"1992","journal-title":"Nat Genet"},{"key":"10.1086\/423624_bib37","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1086\/302722","article-title":"A physical map, including a BAC\/PAC clone contig, of the Williams-Beuren syndrome: deletion region at 7q11.23","volume":"66","author":"Peoples","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib38","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1136\/jmg.40.7.520","article-title":"Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations","volume":"40","author":"Petek","year":"2003","journal-title":"J Med Genet"},{"key":"10.1086\/423624_bib39","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1136\/jmg.35.6.468","article-title":"Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1","volume":"35","author":"Rasmussen","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/423624_bib40","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/301827","article-title":"Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients","volume":"62","author":"Reiter","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/423624_bib41","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng0396-288","article-title":"A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element","volume":"12","author":"Reiter","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/423624_bib42","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1126\/science.2911736","article-title":"Dynamic expression pattern of the myc protooncogene in midgestation mouse embryos","volume":"243","author":"Schmid","year":"1989","journal-title":"Science"},{"key":"10.1086\/423624_bib43","doi-asserted-by":"crossref","first-page":"15315","DOI":"10.1021\/bi026378m","article-title":"Translin binding to DNA: recruitment through DNA ends and consequent conformational transitions","volume":"41","author":"Sengupta","year":"2002","journal-title":"Biochemistry"},{"key":"10.1086\/423624_bib44","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","article-title":"Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis","volume":"9","author":"Shaikh","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/423624_bib45","doi-asserted-by":"crossref","first-page":"R57","DOI":"10.1093\/hmg\/ddh073","article-title":"Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease","volume":"13","author":"Shaw","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1086\/423624_bib46","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","article-title":"Genome architecture, rearrangements and genomic disorders","volume":"18","author":"Stankiewicz","year":"2002","journal-title":"Trends Genet"},{"key":"10.1086\/423624_bib47","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<80::AID-AJMG16>3.0.CO;2-N","article-title":"Do NF1 gene deletions result in a characteristic phenotype?","volume":"73","author":"Tonsgard","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/423624_bib48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.2000.6312","article-title":"Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)","volume":"69","author":"Valero","year":"2000","journal-title":"Genomics"},{"key":"10.1086\/423624_bib49","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/ajmg.1320590427","article-title":"Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations","volume":"59","author":"Wu","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/423624_bib50","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<98::AID-AJMG19>3.0.CO;2-J","article-title":"Deletion of the entire NF1 gene causing distinct manifestations in a family","volume":"69","author":"Wu","year":"1997","journal-title":"Am J Med Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633138?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633138?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,5]],"date-time":"2019-02-05T03:51:54Z","timestamp":1549338714000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707633138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["S0002929707633138"],"URL":"https:\/\/doi.org\/10.1086\/423624","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,9]]}}}