{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T16:27:43Z","timestamp":1783441663180,"version":"3.54.6"},"reference-count":166,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T00:00:00Z","timestamp":1652227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JDB"],"abstract":"<jats:p>Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death, and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic\/fetal, neonatal, pediatric, adolescence, and adulthood life.<\/jats:p>","DOI":"10.3390\/jdb10020016","type":"journal-article","created":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T21:52:11Z","timestamp":1652219531000},"page":"16","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4673-3643","authenticated-orcid":false,"given":"Francisco","family":"\u00c1lvarez-Nava","sequence":"first","affiliation":[{"name":"Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito 170113, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisol","family":"Soto-Quintana","sequence":"additional","affiliation":[{"name":"Genetic Research Institute, University of Zulia, Maracaibo 4001, Venezuela"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/nrn4021","article-title":"Proliferation control in neural stem and progenitor cells","volume":"16","author":"Homem","year":"2015","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0002-9378(16)32685-0","article-title":"Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X; 46,X,del(X)(p11); 46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts","volume":"141","author":"Simpson","year":"1981","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_3","first-page":"233","article-title":"Growth Characteristics of Human Embryonic Cell Lines with Chromosomal Anomalies","volume":"21","author":"Cure","year":"1974","journal-title":"Biomedicine"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1399-0004.1988.tb03449.x","article-title":"Growth disadvantage of 45,X and 46,X,del(X)(p11) fibroblasts","volume":"33","author":"Verp","year":"1988","journal-title":"Clin. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ajmg.1320120408","article-title":"CNS anomalies and the midline as a \u201ddevelopmental field\u201d","volume":"12","author":"Opitz","year":"1982","journal-title":"Am. J. Med. Genet."},{"key":"ref_6","first-page":"173","article-title":"Comparison of cell cycle time in normal and trisomic cells","volume":"23","author":"Paton","year":"1974","journal-title":"Humangenetik"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/BF00273295","article-title":"Differential cell division in human X chromosome mosaics","volume":"14","author":"Barlow","year":"1972","journal-title":"Humangenetik"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Cloutier, J.M., Mahadevaiah, S.K., El Inati, E., Nussenzweig, A., T\u00f3th, A., and Turner, J.M. (2015). Histone H2AFX links meiotic chromosome asynapsis to prophase I oocyte loss in mammals. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005462"},{"key":"ref_9","first-page":"108","article-title":"A hypothesis: Could telomere length and\/or epigenetic alterations contribute to infertility in females with Turner syndrome?","volume":"181","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.1093\/emboj\/cdg242","article-title":"Proteolytic processing is necessary to separate and ensure proper cell growth and cytokinesis functions of HCF-1","volume":"22","author":"Julien","year":"2003","journal-title":"EMBO J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1101\/gad.314351.118","article-title":"The impact of mitotic errors on cell proliferation and tumorigenesis","volume":"32","author":"Levine","year":"2018","journal-title":"Genes Dev."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1101\/gad.278820.116","article-title":"Aneuploidy impairs hematopoietic stem cell fitness and is selected against in regenerating tissues in vivo","volume":"30","author":"Pfau","year":"2016","journal-title":"Genes Dev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/BF00290218","article-title":"Cell selection in vivo. Follow-up of nine unselected mixoploid children","volume":"55","author":"Nielsen","year":"1980","journal-title":"Hum. Genet."},{"key":"ref_14","first-page":"1143","article-title":"Sex chromosome loss and aging: In situ hybridization studies on human interphase nuclei","volume":"57","author":"Guttenbach","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000098184","article-title":"X chromosome loss and ageing","volume":"116","author":"Russell","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1089\/gtmb.2014.0240","article-title":"The proportion of diploid 46,XX cells increases with time in women with Turner syndrome\u2014A 10-year follow-up study","volume":"19","author":"Denes","year":"2015","journal-title":"Genet. Test Mol. Biomarkers"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1159\/000330627","article-title":"The pseudoautosomal region and sex chromosome aneuploidies in domestic species","volume":"6","author":"Raudsepp","year":"2012","journal-title":"Sex Dev."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1262\/jrd.2018-143","article-title":"The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: A case report","volume":"65","author":"Umeyama","year":"2019","journal-title":"J. Reprod. Dev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/ejhg.2008.63","article-title":"The human pseudoautosomal regions: A review for genetic epidemiologists","volume":"16","author":"Flaquer","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Lopes, A.M., Burgoyne, P.S., Ojarikre, A., Bauer, J., Sargent, C.A., Amorim, A., and Affara, N.A. (2010). Transcriptional changes in response to X chromosome dosage in the mouse: Implications for X inactivation and the molecular basis of Turner Syndrome. BMC Genom., 11.","DOI":"10.1186\/1471-2164-11-82"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/351406a0","article-title":"X-chromosome inactivation may explain the difference in viability of XO humans and mice","volume":"351","author":"Ashworth","year":"1991","journal-title":"Nature"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/ng0597-54","article-title":"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome","volume":"16","author":"Rao","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1093\/jhered\/esn027","article-title":"Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome","volume":"99","author":"Probst","year":"2008","journal-title":"J. Hered."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Urbach, A., and Benvenisty, N. (2009). Studying early lethality of 45, XO (Turner\u2019s syndrome) embryos using human embryonic stem cells. PLoS ONE., 4.","DOI":"10.1371\/journal.pone.0004175"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/ajmg.c.31681","article-title":"The mouse as a model of fundamental concepts related to Turner syndrome","volume":"181","author":"Arnold","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/0012-1606(76)90126-3","article-title":"The consequences of X-dosage deficiency in the germ line: Impaired development in vitro of preimplantation embryos from XO mice","volume":"51","author":"Burgoyne","year":"1976","journal-title":"Dev. Biol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.bbr.2007.02.013","article-title":"The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders","volume":"179","author":"Lynn","year":"2007","journal-title":"Behav. Brain Res."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/nrg3245","article-title":"Human aneuploidy: Mechanisms and new insights into an age-old problem","volume":"13","author":"Nagaoka","year":"2012","journal-title":"Nat. Rev. Genet."},{"key":"ref_29","first-page":"855","article-title":"The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: New data and estimates of the excess and relative risk of late fetal death associated with 47, +21 and some other abnormal karyotypes","volume":"45","author":"Hook","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: Review of new data supports the hypothesis that all viable 45, X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","author":"Hook","year":"2014","journal-title":"Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00289473","article-title":"The distribution of chromosomal genotypes associated with Turner\u2019s syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism","volume":"64","author":"Hook","year":"1983","journal-title":"Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/35066065","article-title":"To err (meiotically) is human: The genesis of human aneuploidy","volume":"2","author":"Hassold","year":"2001","journal-title":"Nat. Rev. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1093\/humrep\/dey351","article-title":"Fresh transfer of Day 5 slow-growing embryos versus deferred transfer of vitrified, fully expanded Day 6 blastocysts: Which is the optimal approach?","volume":"34","author":"Tannus","year":"2019","journal-title":"Hum. Reprod."},{"key":"ref_34","first-page":"4","article-title":"Morphological characteristics of monosomy X in spontaneous abortions","volume":"31","author":"Canki","year":"1988","journal-title":"Ann. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/nm.1924","article-title":"Chromosome instability is common in human cleavage-stage embryos","volume":"15","author":"Vanneste","year":"2009","journal-title":"Nat Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.gde.2006.04.011","article-title":"Meiosis and sex chromosome aneuploidy: How meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors","volume":"16","author":"Hall","year":"2006","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1002\/pd.5349","article-title":"Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy","volume":"38","author":"Rudd","year":"2018","journal-title":"Prenat Diagn."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13148-018-0477-0","article-title":"Epigenetics in Turner syndrome","volume":"10","author":"Lanes","year":"2018","journal-title":"Clin. Epigenet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/0378-3782(94)90223-2","article-title":"Growth parameters in mid-trimester fetal Turner syndrome","volume":"38","author":"FitzSimmons","year":"1994","journal-title":"Early Hum. Dev."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1530\/EJE-15-1000","article-title":"X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome","volume":"174","author":"Fiot","year":"2016","journal-title":"Eur. J. Endocrinol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1515\/JPEM.2007.20.5.607","article-title":"Weight deficit at birth and Turner\u2019s syndrome","volume":"20","author":"Wisniewski","year":"2007","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_42","first-page":"157","article-title":"Growth failure in early life: An important manifestation of Turner syndrome","volume":"57","author":"Davenport","year":"2002","journal-title":"Horm. Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1530\/jrf.0.1150263","article-title":"Developmental retardation of XO mouse embryos at mid-gestation","volume":"115","author":"Ishikawa","year":"1999","journal-title":"J. Reprod. Fertil."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1530\/jrf.0.0680387","article-title":"Retarded development of XO conceptuses during early pregnancy in the mouse","volume":"68","author":"Burgoyne","year":"1983","journal-title":"J. Reprod. Fertil."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1006\/dbio.1998.8972","article-title":"Retarded postimplantation development of X0 mouse embryos: Impact of the parental origin of the monosomic X chromosome","volume":"201","author":"Jamieson","year":"1998","journal-title":"Dev. Biol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1093\/genetics\/146.4.1399","article-title":"Paternal transmission of X-linked dysplasia in mouse interspecific hybrids","volume":"146","author":"Zechner","year":"1997","journal-title":"Genetics"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1095\/biolreprod.102.012641","article-title":"Effects of sex chromosome dosage on placental size in mice","volume":"69","author":"Ishikawa","year":"2003","journal-title":"Biol. Reprod."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1242\/dev.102.1.127","article-title":"Polytene chromosomes in mouse trophoblast giant cells","volume":"102","author":"Varmuza","year":"1988","journal-title":"Development"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/hmg\/9.5.695","article-title":"The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome","volume":"9","author":"Schiller","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1086\/302152","article-title":"Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1","volume":"63","author":"Zinn","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00193192","article-title":"The similarity of phenotypic effects caused by Xp and Xq deletions in the human female, a hypothesis","volume":"85","author":"Therman","year":"1990","journal-title":"Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1159\/000015560","article-title":"Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene","volume":"89","author":"Prueih","year":"2000","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1159\/000071601","article-title":"Evidence that postnatal growth retardation in XO mice is due to haploinsufficiency for a non-PAR X gene","volume":"99","author":"Burgoyne","year":"2002","journal-title":"Cytogenet. Genome Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"4578","DOI":"10.1210\/jcem.84.12.6200","article-title":"Growth retardation in Turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure","volume":"84","author":"Haverkamp","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_55","first-page":"293","article-title":"The \u201cgene dosage effect\u201d hypothesis versus the \u201camplified developmental instability\u201d hypothesis in Down syndrome","volume":"57","author":"Pritchard","year":"1999","journal-title":"J. Neural. Transm. Suppl."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"34220","DOI":"10.1038\/srep34220","article-title":"Widespread DNA hypomethylation and differential gene expression in Turner syndrome","volume":"6","author":"Trolle","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"612","DOI":"10.4161\/epi.5.7.12797","article-title":"Methylation profile of genes on the human X chromosome","volume":"5","author":"Kelkar","year":"2010","journal-title":"Epigenetics"},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Rajpathak, S.N., Vellarikkal, S.K., Patowary, A., Scaria, V., Sivasubbu, S., and Deobagkar, D.D. (2014). Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome. PLoS ONE., 9.","DOI":"10.1371\/journal.pone.0100076"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1186\/1471-2164-14-S5-S8","article-title":"Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes","volume":"14","author":"Zhang","year":"2013","journal-title":"BMC Genom."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s13148-015-0112-2","article-title":"DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations","volume":"7","author":"Sharma","year":"2015","journal-title":"Clin. Epigenet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1093\/hmg\/ddr435","article-title":"Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes","volume":"21","author":"Li","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"444","DOI":"10.4161\/epi.5.5.12118","article-title":"Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths","volume":"5","author":"Sousa","year":"2010","journal-title":"Epigenetics"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1172\/JCI6610","article-title":"Increased bone formation by prevention of osteoblast apoptosis with parathyroid hormone","volume":"104","author":"Jilka","year":"1999","journal-title":"J. Clin. Investig."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur. J. Endocrinol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1111\/j.1651-2227.1994.tb18099.x","article-title":"Study of final height in Turner\u2019s syndrome: Ethnic and genetic influences","volume":"83","author":"Rochiccioli","year":"1994","journal-title":"Acta Paediatr."},{"key":"ref_66","unstructured":"Rosen, C.J., Melmed, S., Auchus, R.J., Goldfine, A.B., and Koenig, R.J. Normal and Aberrant Growth in Children. Williams Textbook of Endocrinolog, Elsevier. [14th ed.]."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0378-5955(00)00040-X","article-title":"Ear and hearing in relation to genotype and growth in Turner syndrome","volume":"144","author":"Hanson","year":"2000","journal-title":"Hear. Res."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1080\/03014467700001911","article-title":"Height correlations between parents and mature offspring in normal subjects and in subjects with Turner\u2019s and Klinefelter\u2019s and other syndromes","volume":"4","author":"Brook","year":"1977","journal-title":"Ann. Hum. Biol."},{"key":"ref_69","first-page":"2013","article-title":"Effect of the Parental Origin of the X-Chromosome on the Clinical Features, Associated Complications, the Two-Year-Response to Growth Hormone (RhGH) and the Biochemical Profile in Patients with Turner Syndrome","volume":"10","author":"Lanes","year":"2013","journal-title":"Int. J. Pediatr. Endocrinol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000324105","article-title":"Short stature due to SHOX deficiency: Genotype, phenotype, and therapy","volume":"75","author":"Binder","year":"2011","journal-title":"Horm. Res. Paediatr."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S0022-3476(85)80287-0","article-title":"Growth hormone secretory dynamics in Turner syndrome","volume":"106","author":"Ross","year":"1985","journal-title":"J. Pediatr."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1210\/jcem-60-6-1087","article-title":"Somatomedin-C levels in children and adolescents with gonadal dysgenesis: Differences from age-matched normal females and effect of chronic estrogen replacement therapy","volume":"60","author":"Cuttler","year":"1985","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"E308","DOI":"10.1152\/ajpendo.2001.280.2.E308","article-title":"Reduced free IGF-I and increased IGFBP-3 proteolysis in Turner syndrome: Modulation by female sex steroids","volume":"280","author":"Gravholt","year":"2001","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1046\/j.1365-2265.1999.00720.x","article-title":"Reduced androgen levels in adult Turner syndrome: Influence of female sex steroids and growth hormone status","volume":"50","author":"Gravholt","year":"1999","journal-title":"Clin. Endocrinol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1542\/peds.102.S3.481","article-title":"Turner Syndrome and Osteoporosis: Mechanisms and Prognosis","volume":"102","author":"Rubin","year":"1998","journal-title":"Pediatrics"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1542\/peds.58.5.737","article-title":"A useful radiologic sign for the diagnosis of Turner\u2019s syndrome","volume":"58","author":"Bercu","year":"1976","journal-title":"Pediatrics"},{"key":"ref_77","first-page":"639","article-title":"Subperiosteal and endosteal bone apposition during adolescence","volume":"42","author":"Frisancho","year":"1970","journal-title":"Hum. Biol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s11154-008-9076-2","article-title":"Fracture risk and bone mineral density in Turner syndrome","volume":"9","author":"Bakalov","year":"2008","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1046\/j.1365-2265.1999.00841.x","article-title":"Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy","volume":"51","author":"Bryman","year":"1999","journal-title":"Clin. Endocrinol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1111\/j.1365-2265.2007.02807.x","article-title":"Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome","volume":"66","author":"Bryman","year":"2007","journal-title":"Clin. Endocrinol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1046\/j.1365-2265.2003.01807.x","article-title":"Increased fracture rates in Turner\u2019s syndrome: A nationwide questionnaire survey","volume":"59","author":"Gravholt","year":"2003","journal-title":"Clin. Endocrinol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/S0002-9343(97)00025-9","article-title":"Body size and hip fracture risk in older women: A prospective study. Study of Osteoporotic Fractures Research Group","volume":"103","author":"Ensrud","year":"1997","journal-title":"Am. J. Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1359\/jbmr.1998.13.5.793","article-title":"Osteoblast programmed cell death (apoptosis): Modulation by growth factors and cytokines","volume":"13","author":"Jilka","year":"1998","journal-title":"J. Bone Miner. Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2798","DOI":"10.1210\/jcem.87.6.8598","article-title":"Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: A cross-sectional study","volume":"87","author":"Gravholt","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1111\/j.1365-2265.2007.02984.x","article-title":"Disproportional geometry of the proximal femur in patients with Turner syndrome: A cross-sectional study","volume":"67","author":"Nissen","year":"2007","journal-title":"Clin. Endocrinol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1210\/er.2011-1059","article-title":"Cardiovascular phenotype in Turner syndrome\u2014Integrating cardiology, genetics, and endocrinology","volume":"33","author":"Mortensen","year":"2012","journal-title":"Endocr. Rev."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/uog.151","article-title":"Turner\u2019s syndrome in fetal life","volume":"22","author":"Surerus","year":"2003","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/tera.1420290305","article-title":"Neck web and congenital heart defects: A pathogenic association in 45 X-O Turner syndrome?","volume":"29","author":"Clark","year":"1984","journal-title":"Teratology"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1016\/S0022-3476(98)70119-2","article-title":"Congenital heart disease in patients with Turner\u2019s syndrome. Italian Study Group for Turner Syndrome (ISGTS)","volume":"133","author":"Mazzanti","year":"1998","journal-title":"J. Pediatr."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1542\/peds.2004-1369","article-title":"Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome","volume":"115","author":"Loscalzo","year":"2005","journal-title":"Pediatrics"},{"key":"ref_91","unstructured":"Smith, D.W., and Jones, K.L. (2006). Recognizable Patterns of Human Malformation: Genetic, Embryologic and Clinical Aspects, Elsevier Saunders. [6th ed.]."},{"key":"ref_92","first-page":"445","article-title":"Coarctation of the Aorta in Turner Syndrome: A Pathologic Study of Fetuses with Nuchal Cystic Hygromas, Hydrops Fetalis, and Female Genitalia","volume":"81","author":"Lacro","year":"1988","journal-title":"Pediatrics"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ajmg.1320560318","article-title":"Web neck anomaly and its association with congenital heart disease","volume":"56","author":"Berdahl","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<135::AID-AJMG3>3.0.CO;2-O","article-title":"Developmental analysis of cardiovascular system of 45, X fetuses with cystic hygroma","volume":"68","author":"Miyabara","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_95","first-page":"233","article-title":"Lymphatic malformation in human fetuses. A study of fetuses with Turner\u2019s syndrome or status Bonnevie-Ullrich","volume":"376","year":"1977","journal-title":"Virchows Arch. A Pathol. Anat. Histol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1016\/j.jacc.2008.02.035","article-title":"Aortic valve disease in Turner syndrome","volume":"51","author":"Sachdev","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/S0022-5223(19)33931-5","article-title":"The neural crest as a possible pathogenetic factor in coarctation of the aorta and bicuspid aortic valve","volume":"102","author":"Kappetein","year":"1991","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/ajmg.c.31689","article-title":"The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome","volume":"181","author":"Prakash","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1161\/CIRCRESAHA.111.245035","article-title":"Nfatc1 coordinates valve endocardial cell lineage development required for heart valve formation","volume":"109","author":"Wu","year":"2011","journal-title":"Circ. Res."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/nrcardio.2009.191","article-title":"Cellular and molecular mechanisms of thoracic aortic aneurysms","volume":"6","author":"Yacoub","year":"2009","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/0012-1606(88)90225-4","article-title":"Changes in the vascular extracellular matrix during embryonic vasculogenesis and angiogenesis","volume":"125","author":"Risau","year":"1988","journal-title":"Dev. Biol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/ajmg.c.31686","article-title":"The genetic basis of Turner syndrome aortopathy","volume":"181","author":"Corbitt","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.tcm.2005.09.006","article-title":"Transforming growth factor beta-SMAD2 signaling and aortic arch development","volume":"16","author":"Azhar","year":"2006","journal-title":"Trends Cardiovasc. Med."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/path.2516","article-title":"Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway","volume":"218","author":"Gomez","year":"2009","journal-title":"J. Pathol."},{"key":"ref_105","first-page":"720","article-title":"Perturbation of the transforming growth factor \u03b2 system in Turner syndrome","volume":"44","author":"Zhou","year":"2012","journal-title":"Beijing Da Xue Xue Bao Yi Xue Ban"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1159\/000485321","article-title":"Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study","volume":"89","author":"Hankus","year":"2018","journal-title":"Horm. Res. Paediatr."},{"key":"ref_107","first-page":"1810","article-title":"Spontaneous pubertal development in Turner\u2019s syndrome. Italian Study Group for Turner\u2019s Syndrome","volume":"82","author":"Pasquino","year":"1997","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1016\/j.fertnstert.2011.03.085","article-title":"Outcomes of spontaneous and assisted pregnancies in Turner syndrome: The U.S. National Institutes of Health experience","volume":"95","author":"Hadnott","year":"2011","journal-title":"Fertil. Steril."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1016\/j.fertnstert.2010.12.039","article-title":"Pregnancy Rate and Outcome in Swedish Women with Turner Syndrome","volume":"95","author":"Bryman","year":"2011","journal-title":"Fertil. Steril."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/humrep\/dew012","article-title":"Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome","volume":"31","author":"Bernard","year":"2016","journal-title":"Hum. Reprod."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1093\/molehr\/gag031","article-title":"Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads","volume":"9","author":"Modi","year":"2003","journal-title":"Mol. Hum. Reprod."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1111\/j.1471-0528.2009.02423.x","article-title":"Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome","volume":"117","author":"Balen","year":"2010","journal-title":"BJOG"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.fertnstert.2015.11.042","article-title":"Fertility preservation in Turner syndrome","volume":"105","author":"Grynberg","year":"2016","journal-title":"Fertil. Steril."},{"key":"ref_114","first-page":"69","article-title":"Ovarian differentiation in Turner\u2019s syndrome","volume":"26","author":"Rivelis","year":"1978","journal-title":"J. Genet. Hum."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"2140","DOI":"10.1093\/humrep\/der149","article-title":"Germ cell numbers in human embryonic and fetal gonads during the first two trimesters of pregnancy: Analysis of six published studies","volume":"26","author":"Mamsen","year":"2011","journal-title":"Hum. Reprod."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1017\/S0003480097006507","article-title":"Turner syndrome: A cytogenetic and molecular study","volume":"61","author":"Jacobs","year":"1997","journal-title":"Ann. Hum. Genet."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1111\/j.1601-5223.2001.00153.x","article-title":"Genetic analysis of mosaicism in 53 women with Turner syndrome","volume":"134","author":"Hanson","year":"2001","journal-title":"Hereditas"},{"key":"ref_118","first-page":"3618","article-title":"Follicles are found in the ovaries of adolescent girls with Turner\u2019s syndrome","volume":"87","author":"Hreinsson","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"4896","DOI":"10.1210\/jc.2006-1157","article-title":"Differences in follicle-stimulating hormone secretion between 45, X monosomy Turner syndrome and 45, X\/46, XX mosaicism are evident at an early age","volume":"91","author":"Fechner","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1530\/jrf.0.0750633","article-title":"Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women","volume":"75","author":"Burgoyne","year":"1985","journal-title":"J. Reprod. Fertil."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1016\/j.fertnstert.2003.12.011","article-title":"Number of ovarian follicles in human fetuses with the 45, X karyotype","volume":"81","author":"Reynaud","year":"2004","journal-title":"Fertil. Steril."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF00286989","article-title":"Oocyte Development in XO Foetuses of Man and Mouse: The Possible Role of Heterologous X-Chromosome Pairing in Germ Cell Survival","volume":"94","author":"Speed","year":"1986","journal-title":"Chromosoma"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1530\/rep.0.1230613","article-title":"Gap junctions and ovarian folliculogenesis","volume":"123","author":"Kidder","year":"2002","journal-title":"Reproduction"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1093\/humrep\/dez135","article-title":"Ovarian follicles of young patients with Turner\u2019s syndrome contain normal oocytes but monosomic 45, X granulosa cells","volume":"34","author":"Peek","year":"2019","journal-title":"Hum. Reprod."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0074-7696(08)61524-7","article-title":"Development of Follicles in the Mammalian Ovary","volume":"124","author":"Hirshfield","year":"1991","journal-title":"Int. Rev. Cytol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s11154-005-3051-y","article-title":"New insights into the roles of insulin\/IGF-I in the development and maintenance of beta-cell mass","volume":"6","author":"Kulkarni","year":"2005","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1387\/ijdb.180067nn","article-title":"The triumvirate of beta-cell regeneration: Solutions and bottlenecks to curing diabetes","volume":"62","author":"Singh","year":"2018","journal-title":"Int. J. Dev. Biol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/j.1365-2362.2004.01337.x","article-title":"Insulin-like growth factors and pancreas beta cells","volume":"34","author":"Twickler","year":"2004","journal-title":"Eur. J. Clin. Investig."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"15019","DOI":"10.1038\/nrdp.2015.19","article-title":"Type 2 Diabetes Mellitus","volume":"1","author":"DeFronzo","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"S127","DOI":"10.2337\/dcS13-2011","article-title":"Pathophysiologic approach to therapy in patients with newly diagnosed type 2 diabetes","volume":"36","author":"DeFronzo","year":"2013","journal-title":"Diabetes Care"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/ajmg.c.31678","article-title":"Cardiometabolic health in Turner syndrome","volume":"181","author":"Davis","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1007\/s00125-008-1087-8","article-title":"IGF-I Mediates Regeneration of Endocrine Pancreas by Increasing Beta Cell Replication through Cell Cycle Protein Modulation in Mice","volume":"51","author":"Agudo","year":"2008","journal-title":"Diabetologia"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"482","DOI":"10.3389\/fendo.2020.00482","article-title":"Insulin Sensitivity and Pancreatic \u03b2-Cell Function in Ecuadorian Women with Turner Syndrome","volume":"11","author":"Bastidas","year":"2020","journal-title":"Front. Endocrinol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1126\/science.1101968","article-title":"Epithelial-to-mesenchymal transition generates proliferative human islet precursor cells","volume":"306","author":"Gershengorn","year":"2004","journal-title":"Science"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/nature02520","article-title":"Adult pancreatic beta-cells are formed by self-duplication rather than stem-cell differentiation","volume":"429","author":"Dor","year":"2004","journal-title":"Nature"},{"key":"ref_136","first-page":"126","article-title":"Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome","volume":"181","author":"Bennett","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_137","first-page":"47","article-title":"Cognition and the sex chromosomes: Studies in Turner syndrome","volume":"65","author":"Ross","year":"2006","journal-title":"Horm. Res."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"464","DOI":"10.2307\/1130523","article-title":"The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems","volume":"58","author":"McCauley","year":"1987","journal-title":"Child. Dev."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1016\/0028-3932(94)00065-4","article-title":"The effects of sex steroids, and the X chromosome, on female brain function: A study of the neuropsychology of adult Turner syndrome","volume":"32","author":"Murphy","year":"1994","journal-title":"Neuropsychologia"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1093\/brain\/awl046","article-title":"Visuospatial executive function in Turner syndrome: Functional MRI and neurocognitive findings","volume":"129","author":"Hart","year":"2006","journal-title":"Brain"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/ajmg.c.31679","article-title":"The deep biology of cognition: Moving toward a comprehensive neurodevelopmental model of Turner syndrome","volume":"181","author":"Knickmeyer","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/1098-2779(2000)6:2<135::AID-MRDD8>3.0.CO;2-K","article-title":"Neurodevelopmental and psychosocial aspects of Turner syndrome","volume":"6","author":"Ross","year":"2000","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ana.410340117","article-title":"The effects of X monosomy on brain development: Monozygotic twins discordant for Turner\u2019s syndrome","volume":"34","author":"Reiss","year":"1993","journal-title":"Ann. Neurol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1111\/j.1469-8749.2004.tb01024.x","article-title":"A volumetric study of parietal lobe subregions in Turner syndrome","volume":"46","author":"Brown","year":"2004","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ddrr.87","article-title":"Turner syndrome: Neuroimaging findings: Structural and functional","volume":"15","author":"Mullaney","year":"2009","journal-title":"Dev. Disabil. Res. Rev."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.biopsych.2019.07.032","article-title":"Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting","volume":"87","author":"Green","year":"2020","journal-title":"Biol. Psychiatry"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"8079","DOI":"10.1523\/JNEUROSCI.2745-18.2019","article-title":"X-Chromosome Insufficiency Alters Receptive Fields across the Human Early Visual Cortex","volume":"39","author":"Green","year":"2019","journal-title":"J. Neurosci."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1016\/0140-6736(93)92184-U","article-title":"X-chromosome effects on female brain: A magnetic resonance imaging study of Turner\u2019s syndrome","volume":"342","author":"Murphy","year":"1993","journal-title":"Lancet"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1017\/S0317167100030341","article-title":"Regional cerebral glucose metabolism in Turner syndrome","volume":"17","author":"Clark","year":"1990","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_150","first-page":"474","article-title":"The Effects of the X Chromosome on Intrinsic Functional Connectivity in the Human Brain: Evidence from Turner Syndrome Patients","volume":"27","author":"Xie","year":"2017","journal-title":"Cereb. Cortex"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1093\/cercor\/bhx188","article-title":"X-Chromosome Effects on Attention Networks: Insights from Imaging Resting-State Networks in Turner Syndrome","volume":"28","author":"Green","year":"2018","journal-title":"Cereb. Cortex"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1086\/303039","article-title":"The Turner syndrome-associated neurocognitive phenotype maps to distal Xp","volume":"67","author":"Ross","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1212\/WNL.58.2.218","article-title":"Persistent cognitive deficits in adult women with Turner syndrome","volume":"58","author":"Ross","year":"2002","journal-title":"Neurology"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1111\/j.1469-8749.1993.tb11714.x","article-title":"Intellectual functioning of children with Turner syndrome: A comparison of behavioural phenotypes","volume":"35","author":"Temple","year":"1993","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.heares.2005.03.019","article-title":"The association between short stature and sensorineural hearing loss","volume":"205","author":"Bratthall","year":"2005","journal-title":"Hear. Res."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.c.31673","article-title":"Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome","volume":"181","author":"Bonnard","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"7630","DOI":"10.1523\/JNEUROSCI.21-19-07630.2001","article-title":"Delayed inner ear maturation and neuronal loss in postnatal Igf-1-deficient mice","volume":"21","author":"Camarero","year":"2001","journal-title":"J. Neurosci."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"25","DOI":"10.2147\/TACG.S229828","article-title":"Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome","volume":"13","author":"Witt","year":"2020","journal-title":"Appl. Clin. Genet."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1470-2045(08)70033-0","article-title":"Cancer incidence in women with Turner syndrome in Great Britain: A national cohort study","volume":"9","author":"Schoemaker","year":"2008","journal-title":"Lancet Oncol."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/cncr.22783","article-title":"Exogenous hormone use and meningioma risk: What do we tell our patients?","volume":"110","author":"Claus","year":"2007","journal-title":"Cancer"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1111\/j.1365-2265.2005.02282.x","article-title":"Adult growth hormone replacement therapy and neuroimaging surveillance in brain tumour survivors","volume":"62","author":"Jostel","year":"2005","journal-title":"Clin. Endocrinol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1111\/pcmr.12412","article-title":"Genetics of melanocytic nevi","volume":"28","author":"Roh","year":"2015","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/pde.12119","article-title":"Melanocytic nevi in children of southern Italy: Dermoscopic, constitutional, and environmental factors","volume":"31","author":"Patruno","year":"2014","journal-title":"Pediatr. Dermatol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1097\/00005072-199503000-00009","article-title":"Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas","volume":"54","author":"Riegman","year":"1995","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_165","first-page":"6476","article-title":"Frequent loss of heterozygosity targeting the inactive X chromosome in melanoma","volume":"9","author":"Indsto","year":"2003","journal-title":"Clin. Cancer Res."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"187","DOI":"10.5858\/2004-128-187-ALOTAX","article-title":"Allelic loss of the active X chromosome during bladder carcinogenesis","volume":"128","author":"Cheng","year":"2004","journal-title":"Arch. Pathol. Lab. Med."}],"container-title":["Journal of Developmental Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2221-3759\/10\/2\/16\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:09:01Z","timestamp":1760137741000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2221-3759\/10\/2\/16"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,11]]},"references-count":166,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,6]]}},"alternative-id":["jdb10020016"],"URL":"https:\/\/doi.org\/10.3390\/jdb10020016","relation":{},"ISSN":["2221-3759"],"issn-type":[{"value":"2221-3759","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,11]]}}}