{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T21:05:13Z","timestamp":1793394313779,"version":"4.5.0"},"reference-count":237,"publisher":"Oxford University Press (OUP)","issue":"6","funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"crossref","award":["973 program-2012CB944700"],"award-info":[{"award-number":["973 program-2012CB944700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81270662"],"award-info":[{"award-number":["81270662"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81471509"],"award-info":[{"award-number":["81471509"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370692"],"award-info":[{"award-number":["81370692"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370687"],"award-info":[{"award-number":["81370687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Key Program of National Natural Science Foundation of China","award":["81430029"],"award-info":[{"award-number":["81430029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Reprod. Update"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1093\/humupd\/dmv036","type":"journal-article","created":{"date-parts":[[2015,8,4]],"date-time":"2015-08-04T20:40:51Z","timestamp":1438720851000},"page":"787-808","source":"Crossref","is-referenced-by-count":471,"title":["Genetics of primary ovarian insufficiency: new developments and opportunities"],"prefix":"10.1093","volume":"21","author":[{"given":"Yingying","family":"Qin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe Leigh","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-Jiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,8,4]]},"reference":[{"key":"2015100609161175000_21.6.787.1","doi-asserted-by":"crossref","first-page":"4540","DOI":"10.1210\/jc.2009-0186","article-title":"Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure","volume":"11","author":"Aboura","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.2","first-page":"1483","article-title":"ACOG committee opinion. No. 338: Screening for fragile X syndrome","volume":"6","year":"2006","journal-title":"Obstet Gynecol"},{"key":"2015100609161175000_21.6.787.3","first-page":"844","article-title":"The genetics of XX gonadal dysgenesis","volume":"5","author":"Aittom\u00e4ki","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.4","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/0092-8674(95)90275-9","article-title":"Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure","volume":"6","author":"Aittom\u00e4ki","year":"1995","journal-title":"Cell"},{"key":"2015100609161175000_21.6.787.5","first-page":"3722","article-title":"Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene","volume":"10","author":"Aittom\u00e4ki","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI78473"},{"key":"2015100609161175000_21.6.787.7","doi-asserted-by":"crossref","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\u2014preliminary data","volume":"4","author":"Allingham-Hawkins","year":"1999","journal-title":"Am J Med Genet"},{"key":"2015100609161175000_21.6.787.8","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.crvi.2014.09.003","article-title":"Cytogenetic abnormalities in Tunisian women with premature ovarian failure","volume":"12","author":"Ayed","year":"2014","journal-title":"C R Biol"},{"key":"2015100609161175000_21.6.787.9","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.fertnstert.2011.05.088","article-title":"Ovarian function in Duarte galactosemia","volume":"2","author":"Badik","year":"2011","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.10","doi-asserted-by":"crossref","first-page":"e30709","DOI":"10.1371\/journal.pone.0030709","article-title":"Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expression","volume":"2","author":"Banerjee","year":"2012","journal-title":"PLoS One"},{"key":"2015100609161175000_21.6.787.11","doi-asserted-by":"crossref","unstructured":"Baronchelli S , Conconi D , Panzeri E , Bentivegna A , Redaelli S , Lissoni S , Saccheri F , Villa N , Crosti F , Sala E et al . Cytogenetics of premature ovarian failure: an investigation on 269 affected women. J Biomed Biotechnol 2011;370195.","DOI":"10.1155\/2011\/370195"},{"key":"2015100609161175000_21.6.787.12","first-page":"1097","article-title":"Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure","volume":"3","author":"Bertini","year":"2010","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.13","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/humu.20079","article-title":"The human FOXL2 mutation database","volume":"3","author":"Beysen","year":"2004","journal-title":"Hum Mutat"},{"key":"2015100609161175000_21.6.787.14","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1086\/301761","article-title":"A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility","volume":"3","author":"Bione","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.15","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1093\/humrep\/deh502","article-title":"Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B","volume":"12","author":"Bione","year":"2004","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.16","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1038\/nature05874","article-title":"Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project","volume":"7146","author":"Birney","year":"2007","journal-title":"Nature"},{"key":"2015100609161175000_21.6.787.17","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1006\/geno.1996.4488","article-title":"Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families","volume":"3","author":"Bjursell","year":"1997","journal-title":"Genomics"},{"key":"2015100609161175000_21.6.787.18","doi-asserted-by":"crossref","first-page":"e1000393","DOI":"10.1371\/journal.pgen.1000393","article-title":"Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair","volume":"2","author":"Bolcun-Filas","year":"2009","journal-title":"PLoS Genet"},{"key":"2015100609161175000_21.6.787.19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1055\/s-2002-32363","article-title":"\u2018Vanishing white matter\u2019 and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype","volume":"2","author":"Boltshauser","year":"2002","journal-title":"Neuropediatrics"},{"key":"2015100609161175000_21.6.787.20","doi-asserted-by":"crossref","first-page":"e42423","DOI":"10.1371\/journal.pone.0042423","article-title":"Blood cell mitochondrial DNA content and premature ovarian aging","volume":"8","author":"Bonomi","year":"2012","journal-title":"PLoS One"},{"key":"2015100609161175000_21.6.787.21","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1002\/humu.21543","article-title":"Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort","volume":"10","author":"Bouilly","year":"2011","journal-title":"Hum Mutat"},{"key":"2015100609161175000_21.6.787.22","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1210\/jc.2014-2761","article-title":"New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression","volume":"3","author":"Bouilly","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.23","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.fertnstert.2007.03.008","article-title":"Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure","volume":"2","author":"Bretherick","year":"2008","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.24","doi-asserted-by":"crossref","first-page":"e33412","DOI":"10.1371\/journal.pone.0033412","article-title":"Genome-wide linkage in a highly consanguineous pedigree reveals two novel Loci on chromosome 7 for non-syndromic familial premature ovarian failure","volume":"3","author":"Caburet","year":"2012","journal-title":"PLoS One"},{"key":"2015100609161175000_21.6.787.25","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1056\/NEJMoa1309635","article-title":"Mutant cohesin in premature ovarian failure","volume":"10","author":"Caburet","year":"2014","journal-title":"N Engl J Med"},{"key":"2015100609161175000_21.6.787.26","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.jsbmb.2007.02.002","article-title":"Progesterone receptor membrane component 1: an integrative review","volume":"1\u20135","author":"Cahill","year":"2007","journal-title":"J Steroid Biochem Mol Biol"},{"key":"2015100609161175000_21.6.787.27","first-page":"341","article-title":"The cytogenetics of premature ovarian failure","volume":"5","author":"Castillo","year":"1992","journal-title":"Rev Chil Obstet Ginecol"},{"key":"2015100609161175000_21.6.787.28","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.ijgo.2010.03.023","article-title":"Genetic abnormalities in Turkish women with premature ovarian failure","volume":"2","author":"Ceylaner","year":"2010","journal-title":"Int J Gynaecol Obstet"},{"key":"2015100609161175000_21.6.787.29","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.fertnstert.2006.02.107","article-title":"Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure","volume":"4","author":"Chand","year":"2006","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.30","doi-asserted-by":"crossref","first-page":"3241","DOI":"10.1093\/humrep\/dem323","article-title":"Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure","volume":"12","author":"Chand","year":"2007","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.31","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1093\/humupd\/dmp031","article-title":"Inhibin and premature ovarian failure","volume":"1","author":"Chand","year":"2010","journal-title":"Hum Reprod Update"},{"key":"2015100609161175000_21.6.787.32","doi-asserted-by":"crossref","first-page":"3230","DOI":"10.1093\/humrep\/dep296","article-title":"Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure","volume":"12","author":"Chatterjee","year":"2009","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.33","first-page":"315","article-title":"Follicular stimulating hormone receptor gene C566T mutation in premature ovarian failure","volume":"5","author":"Chen","year":"2006","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"key":"2015100609161175000_21.6.787.34","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/ng.732","article-title":"Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3","volume":"1","author":"Chen","year":"2011","journal-title":"Nat Genet"},{"key":"2015100609161175000_21.6.787.35","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/1477-7827-9-75","article-title":"Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure","volume":"1","author":"Chen","year":"2011","journal-title":"Reprod Biol Endocrinol"},{"key":"2015100609161175000_21.6.787.36","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1093\/hmg\/ddr570","article-title":"Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study","volume":"6","author":"Chen","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.37","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1095\/biolreprod.107.060459","article-title":"Microarray analyses of newborn mouse ovaries lacking Nobox","volume":"2","author":"Choi","year":"2007","journal-title":"Biol Reprod"},{"key":"2015100609161175000_21.6.787.38","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1095\/biolreprod.108.071217","article-title":"Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expression","volume":"6","author":"Choi","year":"2008","journal-title":"Biol Reprod"},{"key":"2015100609161175000_21.6.787.39","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1387\/ijdb.092920ac","article-title":"Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation","volume":"4","author":"Combes","year":"2010","journal-title":"Int J Dev Biol"},{"key":"2015100609161175000_21.6.787.40","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1046\/j.1365-2265.1999.00745.x","article-title":"Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome","volume":"1","author":"Conway","year":"1999","journal-title":"Clin Endocrinol"},{"key":"2015100609161175000_21.6.787.41","first-page":"604","article-title":"Incidence of premature ovarian failure","volume":"4","author":"Coulam","year":"1986","journal-title":"Obstet Gynecol"},{"key":"2015100609161175000_21.6.787.42","doi-asserted-by":"publisher","DOI":"10.1038\/35056541"},{"key":"2015100609161175000_21.6.787.43","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0015-0282(98)00203-9","article-title":"No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure","volume":"3","author":"da Fonte Kohek","year":"1998","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.44","doi-asserted-by":"crossref","first-page":"3039","DOI":"10.1093\/humrep\/13.11.3039","article-title":"A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure","volume":"11","author":"Davison","year":"1998","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.45","doi-asserted-by":"crossref","first-page":"e43","DOI":"10.1136\/jmg.39.8.e43","article-title":"FOXL2 mutation screening in a large panel of POF patients and XX males","volume":"8","author":"De Baere","year":"2002","journal-title":"J Med Genet"},{"key":"2015100609161175000_21.6.787.46","first-page":"321","article-title":"X-chromosome abnormalities in women with premature ovarian failure","volume":"4","author":"Devi","year":"1999","journal-title":"J Reprod Med"},{"key":"2015100609161175000_21.6.787.47","first-page":"1025","article-title":"Mental status of females with an FMR1 gene full mutation","volume":"5","author":"de Vries","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.48","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1101\/gad.13.5.523","article-title":"Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis","volume":"5","author":"de Vries","year":"1999","journal-title":"Genes Dev"},{"key":"2015100609161175000_21.6.787.49","doi-asserted-by":"crossref","first-page":"E2129","DOI":"10.1210\/jc.2014-1268","article-title":"Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency","volume":"10","author":"de Vries","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.50","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1203\/00006450-199504000-00003","article-title":"Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence","volume":"4 Pt 1","author":"de Zegher","year":"1995","journal-title":"Pediatr Res"},{"key":"2015100609161175000_21.6.787.51","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1086\/422103","article-title":"Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene","volume":"1","author":"Di Pasquale","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.52","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1210\/jc.2005-2650","article-title":"Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure","volume":"5","author":"Di Pasquale","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.53","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1093\/humrep\/deh342","article-title":"Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure","volume":"8","author":"Dixit","year":"2004","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.54","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1097\/01.gme.0000184424.96437.7a","article-title":"Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure","volume":"6","author":"Dixit","year":"2005","journal-title":"Menopause"},{"key":"2015100609161175000_21.6.787.55","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1093\/humrep\/del129","article-title":"Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure","volume":"6","author":"Dixit","year":"2006","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.56","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1093\/humrep\/del107","article-title":"Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure","volume":"8","author":"Dixit","year":"2006","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.57","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/s00439-006-0150-0","article-title":"Missense mutations in the BMP15 gene are associated with ovarian failure","volume":"4","author":"Dixit","year":"2006","journal-title":"Hum Genet"},{"key":"2015100609161175000_21.6.787.58","doi-asserted-by":"crossref","first-page":"3159","DOI":"10.1093\/humrep\/deq284","article-title":"Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure","volume":"12","author":"Dudding","year":"2010","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.59","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1093\/humrep\/des130","article-title":"POLG mutations and age at menopause","volume":"7","author":"Duncan","year":"2012","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.60","doi-asserted-by":"crossref","unstructured":"Ellis NA , German J . Molecular genetics of Bloom's syndrome. Hum Mol Genet 1996;1457\u20131463.","DOI":"10.1093\/hmg\/5.Supplement_1.1457"},{"key":"2015100609161175000_21.6.787.61","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"7414","author":"ENCODE Project Consortium","year":"2012","journal-title":"Nature"},{"key":"2015100609161175000_21.6.787.62","doi-asserted-by":"crossref","first-page":"4962","DOI":"10.1210\/jc.2006-1128","article-title":"Progesterone regulation of human granulosa\/luteal cell viability by an RU486-independent mechanism","volume":"12","author":"Engmann","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.63","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1097\/00005792-196605000-00001","article-title":"Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process","volume":"3","author":"Epstein","year":"1966","journal-title":"Medicine"},{"key":"2015100609161175000_21.6.787.64","first-page":"509","article-title":"The need for interaction between assisted reproduction technology and genetics. Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology","volume":"5","author":"European Society of Human Genetics; European Society of Human Reproduction and Embryology","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"2015100609161175000_21.6.787.65","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.gene.2012.09.029","article-title":"A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)","volume":"1","author":"Fierabracci","year":"2012","journal-title":"Gene"},{"key":"2015100609161175000_21.6.787.66","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1086\/375404","article-title":"Ovarian failure related to eukaryotic initiation factor 2B mutations","volume":"6","author":"Fogli","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.67","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1472-6874-4-8","article-title":"Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure","volume":"1","author":"Fogli","year":"2004","journal-title":"BMC Womens Health"},{"key":"2015100609161175000_21.6.787.68","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.rbmo.2011.11.017","article-title":"Screening for mutations of the FOXO4 gene in premature ovarian failure patients","volume":"3","author":"Fonseca","year":"2012","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.69","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.trsl.2012.05.006","article-title":"CITED2 mutations potentially cause idiopathic premature ovarian failure","volume":"5","author":"Fonseca","year":"2012","journal-title":"Transl Res"},{"key":"2015100609161175000_21.6.787.70","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2015.04.016"},{"key":"2015100609161175000_21.6.787.71","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/sj.ejhg.5200805","article-title":"Guidelines for the appropriate use of genetic tests in infertile couples","volume":"5","author":"Foresta","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"2015100609161175000_21.6.787.72","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s10545-010-9221-4","article-title":"Ovarian function in girls and women with GALT-deficiency galactosemia","volume":"2","author":"Fridovich-Keil","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"2015100609161175000_21.6.787.73","doi-asserted-by":"publisher","DOI":"10.1038\/ng0493-279"},{"key":"2015100609161175000_21.6.787.74","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00005792-199103000-00003","article-title":"Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis","volume":"2","author":"Gatti","year":"1991","journal-title":"Medicine"},{"key":"2015100609161175000_21.6.787.75","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1093\/humrep\/deg327","article-title":"Fragile X premutation in women with sporadic premature ovarian failure in Slovenia","volume":"8","author":"Gersak","year":"2003","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.76","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/6821","article-title":"Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis","volume":"3","author":"Gong","year":"1999","journal-title":"Nat Genet"},{"key":"2015100609161175000_21.6.787.77","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/S0015-0282(03)01121-X","article-title":"Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders","volume":"4","author":"Goswami","year":"2003","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.78","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1093\/hmg\/ddm227","article-title":"The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2\u2032-deoxyguanosine","volume":"22","author":"Graziewicz","year":"2007","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.79","doi-asserted-by":"crossref","first-page":"e1003383","DOI":"10.1371\/journal.pgen.1003383","article-title":"Mouse HFM1\/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis","volume":"3","author":"Guiraldelli","year":"2013","journal-title":"PLoS Genet"},{"key":"2015100609161175000_21.6.787.80","doi-asserted-by":"crossref","first-page":"e103316","DOI":"10.1371\/journal.pone.0103316","article-title":"FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese","volume":"7","author":"Guo","year":"2014","journal-title":"PLoS One"},{"key":"2015100609161175000_21.6.787.81","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/8.8.729"},{"key":"2015100609161175000_21.6.787.82","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah219"},{"key":"2015100609161175000_21.6.787.83","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1399-0004.1989.tb03169.x","article-title":"Chromosome studies and fertility treatment in women with ovarian failure","volume":"2","author":"Hens","year":"1989","journal-title":"Clin Genet"},{"key":"2015100609161175000_21.6.787.84","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1083-3188(01)00075-4","article-title":"47, XXX in an adolescent with premature ovarian failure and autoimmune disease","volume":"2","author":"Holland","year":"2001","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"2015100609161175000_21.6.787.85","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1016\/j.fertnstert.2005.10.071","article-title":"Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure","volume":"5","author":"Hui","year":"2006","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.86","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mce.2010.05.017","article-title":"Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion","volume":"1\u20132","author":"Inagaki","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"2015100609161175000_21.6.787.87","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/j.fertnstert.2011.08.028","article-title":"Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency","volume":"5","author":"Ishizuka","year":"2011","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.88","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.mce.2009.11.013","article-title":"WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival","volume":"1-2","author":"Jaaskelainen","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"2015100609161175000_21.6.787.89","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1097\/gme.0b013e3181cf8521","article-title":"Similar phenotype characteristics comparing familial and sporadic premature ovarian failure","volume":"4","author":"Janse","year":"2010","journal-title":"Menopause"},{"key":"2015100609161175000_21.6.787.90","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.fertnstert.2011.10.032","article-title":"Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)","volume":"1","author":"Janse","year":"2012","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.91","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","article-title":"Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease","volume":"4","author":"Jenkinson","year":"2013","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.92","first-page":"4338","article-title":"The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry","volume":"12","author":"Jiang","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.93","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1093\/humrep\/des104","article-title":"Cytogenetic analysis of 531 Chinese women with premature ovarian failure","volume":"7","author":"Jiao","year":"2012","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.94","doi-asserted-by":"crossref","first-page":"e74759","DOI":"10.1371\/journal.pone.0074759","article-title":"Novel NR5A1 missense mutation in premature ovarian failure: detection in Han Chinese indicates causation in different ethnic groups","volume":"9","author":"Jiao","year":"2013","journal-title":"PLoS One"},{"key":"2015100609161175000_21.6.787.95","doi-asserted-by":"crossref","first-page":"588","DOI":"10.3109\/09513590.2013.788625","article-title":"Cytogenetic analysis of 179 Iranian women with premature ovarian failure","volume":"6","author":"Kalantari","year":"2013","journal-title":"Gynecol Endocrinol"},{"key":"2015100609161175000_21.6.787.96","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1093\/humrep\/den086","article-title":"Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure","volume":"6","author":"Kang","year":"2008","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.97","doi-asserted-by":"crossref","first-page":"E1534","DOI":"10.1210\/jc.2013-1102","article-title":"Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency","volume":"9","author":"Kasippillai","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"2015100609161175000_21.6.787.98","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/S0140-6736(79)90658-5","article-title":"Ovarian failure in galactosaemia","volume":"8145","author":"Kaufman","year":"1979","journal-title":"Lancet"},{"key":"2015100609161175000_21.6.787.99","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1056\/NEJM198104233041702","article-title":"Hypergonadotropic hypogonadism in female patients with galactosemia","volume":"17","author":"Kaufman","year":"1981","journal-title":"N Engl J Med"},{"key":"2015100609161175000_21.6.787.100","first-page":"467","article-title":"Premature ovarian failure associated with a Robertsonian translocation","volume":"4","author":"Kawano","year":"1998","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2015100609161175000_21.6.787.101","doi-asserted-by":"crossref","first-page":"2372","DOI":"10.1093\/humrep\/dep197","article-title":"Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene","volume":"9","author":"Knauff","year":"2009","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.102","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1016\/j.fertnstert.2011.01.018","article-title":"Copy number variants on the X chromosome in women with primary ovarian insufficiency","volume":"5","author":"Knauff","year":"2011","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.103","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1101\/gad.14.9.1085","article-title":"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice","volume":"9","author":"Kneitz","year":"2000","journal-title":"Genes Dev"},{"key":"2015100609161175000_21.6.787.104","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/j.fertnstert.2003.08.054","article-title":"Premature ovarian failure in a female with proximal symphalangism and Noggin mutation","volume":"4","author":"Kosaki","year":"2004","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.105","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.fertnstert.2006.05.079","article-title":"Growth differentiating factor-9 mutations may be associated with premature ovarian failure","volume":"1","author":"Kovanci","year":"2007","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.106","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1016\/j.fertnstert.2007.07.1373","article-title":"Oocyte-specific G-protein-coupled receptor 3 (GPR3): no perturbations found in 82 women with premature ovarian failure (first report)","volume":"4","author":"Kovanci","year":"2008","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.107","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1007\/BF01700660","article-title":"Cytokine and coagulation characteristics of retrieved blood after arthroplasty","volume":"12","author":"Kristiansson","year":"1995","journal-title":"Intensive Care Med"},{"key":"2015100609161175000_21.6.787.108","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1086\/505406","article-title":"Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure","volume":"1","author":"Lacombe","year":"2006","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.109","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1530\/eje.1.02135","article-title":"Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure","volume":"5","author":"Laissue","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"2015100609161175000_21.6.787.110","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1111\/j.1365-2265.2007.02797.x","article-title":"Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure","volume":"6","author":"Laissue","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2015100609161175000_21.6.787.111","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/j.1365-2265.2009.03571.x","article-title":"A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure","volume":"5","author":"Lakhal","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2015100609161175000_21.6.787.112","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1399-0004.2009.01359.x","article-title":"Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients","volume":"2","author":"Lakhal","year":"2010","journal-title":"Clin Genet"},{"key":"2015100609161175000_21.6.787.113","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/j.1365-2265.2009.03651.x","article-title":"BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?","volume":"3","author":"Lakhal","year":"2010","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2015100609161175000_21.6.787.114","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.gene.2012.08.007","article-title":"Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure","volume":"2","author":"Lakhal","year":"2012","journal-title":"Gene"},{"key":"2015100609161175000_21.6.787.115","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s10815-011-9553-5","article-title":"Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown","volume":"7","author":"Lechowska","year":"2011","journal-title":"J Assist Reprod Genet"},{"key":"2015100609161175000_21.6.787.116","first-page":"84","article-title":"BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure","volume":"1","author":"Ledig","year":"2008","journal-title":"Am J Obstet Gynecol"},{"key":"2015100609161175000_21.6.787.117","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000314958","article-title":"Copy number variants in premature ovarian failure and ovarian dysgenesis","volume":"4\u20135","author":"Ledig","year":"2010","journal-title":"Sex Dev"},{"key":"2015100609161175000_21.6.787.118","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1242\/dev.02667","article-title":"Infertility caused by retardation of follicular development in mice with oocyte-specific expression of Foxo3a","volume":"1","author":"Liu","year":"2007","journal-title":"Development"},{"key":"2015100609161175000_21.6.787.119","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1076\/1381-6810(200009)21:3;1-Z;FT185","article-title":"Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation","volume":"3","author":"Lorda-Sanchez","year":"2000","journal-title":"Ophthalmic Genet"},{"key":"2015100609161175000_21.6.787.120","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.steroids.2007.12.017","article-title":"Progesterone receptor membrane component 1\u2014many tasks for a versatile protein","volume":"9\u201310","author":"Losel","year":"2008","journal-title":"Steroids"},{"key":"2015100609161175000_21.6.787.121","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1056\/NEJMoa0806228","article-title":"Mutations in NR5A1 associated with ovarian insufficiency","volume":"12","author":"Lourenco","year":"2009","journal-title":"N Engl J Med"},{"key":"2015100609161175000_21.6.787.122","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","article-title":"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study","volume":"9437","author":"Luoma","year":"2004","journal-title":"Lancet"},{"key":"2015100609161175000_21.6.787.123","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.molcel.2012.05.048","article-title":"MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination","volume":"4","author":"Lutzmann","year":"2012","journal-title":"Mol cell"},{"key":"2015100609161175000_21.6.787.124","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1530\/EJE-07-0400","article-title":"Genetic investigation of four meiotic genes in women with premature ovarian failure","volume":"1","author":"Mandon-Pepin","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"2015100609161175000_21.6.787.125","doi-asserted-by":"crossref","first-page":"3776","DOI":"10.1093\/hmg\/ddn274","article-title":"Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure","volume":"23","author":"Mansouri","year":"2008","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.126","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1093\/humrep\/17.7.1741","article-title":"Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure","volume":"7","author":"Marozzi","year":"2002","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.127","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.clineuro.2008.06.002","article-title":"The ovarioleukodystrophy","volume":"10","author":"Mathis","year":"2008","journal-title":"Clin Neurol Neurosurg"},{"key":"2015100609161175000_21.6.787.128","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1038\/353750a0","article-title":"Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture","volume":"6346","author":"Matsui","year":"1991","journal-title":"Nature"},{"key":"2015100609161175000_21.6.787.129","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1093\/humrep\/deh667","article-title":"Low oocyte mitochondrial DNA content in ovarian insufficiency","volume":"3","author":"May-Panloup","year":"2005","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.130","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1016\/j.fertnstert.2010.12.052","article-title":"Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure","volume":"5","author":"McGuire","year":"2011","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.131","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1126\/science.1103974","article-title":"The Gs-linked receptor GPR3 maintains meiotic arrest in mammalian oocytes","volume":"5703","author":"Mehlmann","year":"2004","journal-title":"Science"},{"key":"2015100609161175000_21.6.787.132","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1212\/WNL.0000000000001036","article-title":"Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features","volume":"22","author":"Morino","year":"2014","journal-title":"Neurology"},{"key":"2015100609161175000_21.6.787.133","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1038\/jhg.2010.155","article-title":"Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure","volume":"2","author":"Nishimura-Tadaki","year":"2011","journal-title":"J Hum Genet"},{"key":"2015100609161175000_21.6.787.134","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1093\/humrep\/deu149","article-title":"Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform","volume":"8","author":"Norling","year":"2014","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.135","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/ncb2046","article-title":"Mitotic cell-cycle progression is regulated by CPEB1 and CPEB4-dependent translational control","volume":"5","author":"Novoa","year":"2010","journal-title":"Nat Cell Biol"},{"key":"2015100609161175000_21.6.787.136","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1016\/j.fertnstert.2011.04.045","article-title":"Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype","volume":"8","author":"Ojeda","year":"2011","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.137","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1093\/humrep\/den278","article-title":"A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus","volume":"12","author":"Oldenburg","year":"2008","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.138","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmg.25.1.47","article-title":"Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)","volume":"1","author":"Oley","year":"1988","journal-title":"J Med Genet"},{"key":"2015100609161175000_21.6.787.139","first-page":"184","article-title":"Premature ovarian failure in a 35-year-old woman with a Robertsonian translocation","volume":"3","author":"Orczyk","year":"1989","journal-title":"Int J Fertil"},{"key":"2015100609161175000_21.6.787.140","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1093\/humrep\/del076","article-title":"Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma","volume":"10","author":"Pagnamenta","year":"2006","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.141","first-page":"572","article-title":"Germline study of AR gene of Indian women with ovarian failure","volume":"8","author":"Panda","year":"2010","journal-title":"Gynecol Endocrinol"},{"key":"2015100609161175000_21.6.787.142","doi-asserted-by":"crossref","first-page":"8090","DOI":"10.1073\/pnas.0601083103","article-title":"Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8","volume":"21","author":"Pangas","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"2015100609161175000_21.6.787.143","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1210\/en.2006-0114","article-title":"Progesterone membrane receptor component 1 expression in the immature rat ovary and its role in mediating progesterone's antiapoptotic action","volume":"6","author":"Peluso","year":"2006","journal-title":"Endocrinology"},{"key":"2015100609161175000_21.6.787.144","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.jaut.2009.03.004","article-title":"Primary Ovarian Insufficiency: X chromosome defects and autoimmunity","volume":"1","author":"Persani","year":"2009","journal-title":"J Autoimmun"},{"key":"2015100609161175000_21.6.787.145","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7827-8-28"},{"key":"2015100609161175000_21.6.787.146","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","article-title":"Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome","volume":"2","author":"Pierce","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.147","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1073\/pnas.1103471108","article-title":"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome","volume":"16","author":"Pierce","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"2015100609161175000_21.6.787.148","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.ajhg.2013.03.007","article-title":"Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome","volume":"4","author":"Pierce","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"Suppl","key":"2015100609161175000_21.6.787.149","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1016\/j.fertnstert.2008.04.054","article-title":"Expression of forkhead transcription factors in human granulosa cells","volume":"4","author":"Pisarska","year":"2009","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.150","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1093\/humrep\/del174","article-title":"Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients","volume":"9","author":"Portnoi","year":"2006","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.151","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ijgo.2009.01.023","article-title":"Absence of 566C>T mutation in exon 7 of the FSHR gene in Indian women with premature ovarian failure","volume":"3","author":"Prakash","year":"2009","journal-title":"Int J Gynaecol Obstet"},{"key":"2015100609161175000_21.6.787.152","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":"1-2","author":"Prueitt","year":"2000","journal-title":"Cytogenet Cell Genet"},{"key":"2015100609161175000_21.6.787.153","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000064052","article-title":"Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes","volume":"1\u20132","author":"Prueitt","year":"2002","journal-title":"Cytogenet Genome Res"},{"key":"2015100609161175000_21.6.787.154","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.maturitas.2012.01.011","article-title":"LAMC1 gene is associated with premature ovarian failure","volume":"4","author":"Pyun","year":"2012","journal-title":"Maturitas"},{"key":"2015100609161175000_21.6.787.155","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1093\/hmg\/ddg045","article-title":"A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice","volume":"5","author":"Qin","year":"2003","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.156","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1093\/hmg\/ddh141","article-title":"Long-range activation of Sox9 in Odd Sex (Ods) mice","volume":"12","author":"Qin","year":"2004","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.157","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1086\/519496","article-title":"NOBOX homeobox mutation causes premature ovarian failure","volume":"3","author":"Qin","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.158","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1016\/j.fertnstert.2007.01.020","article-title":"Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure","volume":"5","author":"Qin","year":"2007","journal-title":"Fertil Steril"},{"issue":"(Suppl)","key":"2015100609161175000_21.6.787.159","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1016\/j.fertnstert.2008.08.020","article-title":"Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure","volume":"4","author":"Qin","year":"2009","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.160","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.rbmo.2011.07.021","article-title":"Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure","volume":"6","author":"Qin","year":"2011","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.161","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3109\/09513590.2011.583954","article-title":"Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure","volume":"1","author":"Qin","year":"2012","journal-title":"Gynecol Endocrinol"},{"key":"2015100609161175000_21.6.787.162","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1093\/hmg\/ddr462","article-title":"Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)","volume":"2","author":"Qin","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2015100609161175000_21.6.787.163","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-5"},{"key":"2015100609161175000_21.6.787.164","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1016\/j.fertnstert.2014.01.001","article-title":"Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure","volume":"4","author":"Qin","year":"2014","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.165","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.rbmo.2014.05.003","article-title":"AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause","volume":"3","author":"Qin","year":"2014","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.166","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1093\/humrep\/deq158","article-title":"Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)","volume":"8","author":"Quilter","year":"2010","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.167","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1210\/me.2007-0172","article-title":"p27kip1 (cyclin-dependent kinase inhibitor 1B) controls ovarian development by suppressing follicle endowment and activation and promoting follicle atresia in mice","volume":"9","author":"Rajareddy","year":"2007","journal-title":"Mol Endocrinol"},{"key":"2015100609161175000_21.6.787.168","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1126\/science.1099755","article-title":"NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression","volume":"5687","author":"Rajkovic","year":"2004","journal-title":"Science"},{"key":"2015100609161175000_21.6.787.169","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/S0015-0282(16)53513-4","article-title":"Clinical features of young women with hypergonadotropic amenorrhea","volume":"5","author":"Rebar","year":"1990","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.170","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1126\/science.1152257","article-title":"Oocyte-specific deletion of Pten causes premature activation of the primordial follicle pool","volume":"5863","author":"Reddy","year":"2008","journal-title":"Science"},{"key":"2015100609161175000_21.6.787.171","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.chc.2007.03.001","article-title":"Fragile X syndrome: assessment and treatment implications","volume":"3","author":"Reiss","year":"2007","journal-title":"Child Adolesc Psychiatr Clin N Am"},{"key":"2015100609161175000_21.6.787.172","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1093\/humrep\/dei495","article-title":"Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature","volume":"6","author":"Rizzolio","year":"2006","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.173","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-007-0329-z","article-title":"Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis","volume":"3-4","author":"Rizzolio","year":"2007","journal-title":"Hum Genet"},{"key":"2015100609161175000_21.6.787.174","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1136\/jmg.2007.056093","article-title":"Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome","volume":"9","author":"Rizzolio","year":"2009","journal-title":"J Med Genet"},{"key":"2015100609161175000_21.6.787.175","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/humu.20961","article-title":"BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein","volume":"5","author":"Rossetti","year":"2009","journal-title":"Hum Mutat"},{"key":"2015100609161175000_21.6.787.176","doi-asserted-by":"crossref","unstructured":"Santos MG , Machado AZ , Martins CN , Domenice S , Costa EM , Nishi MY , Ferraz-de-Souza B , Jorge SA , Pereira CA , Soardi FC et al . Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency. Biomed Res Int 2014;787465.","DOI":"10.1155\/2014\/787465"},{"key":"2015100609161175000_21.6.787.177","first-page":"262","article-title":"X inactivation in man: a woman with t(Xq--;12q+)","volume":"3","author":"Sarto","year":"1973","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.178","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ymgme.2003.10.007","article-title":"Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients","volume":"1","author":"Schadewaldt","year":"2004","journal-title":"Mol Genet Metab"},{"key":"2015100609161175000_21.6.787.179","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/ana.410410515","article-title":"Leukodystrophy in patients with ovarian dysgenesis","volume":"5","author":"Schiffmann","year":"1997","journal-title":"Ann Neurol"},{"key":"2015100609161175000_21.6.787.180","doi-asserted-by":"crossref","first-page":"2644","DOI":"10.1093\/humrep\/15.12.2644","article-title":"Inhibin: a candidate gene for premature ovarian failure","volume":"12","author":"Shelling","year":"2000","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.181","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/ng.2384","article-title":"Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome","volume":"9","author":"Shi","year":"2012","journal-title":"Nat Genet"},{"key":"2015100609161175000_21.6.787.182","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1073\/pnas.0506736102","article-title":"Premature ovarian failure in androgen receptor-deficient mice","volume":"1","author":"Shiina","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"2015100609161175000_21.6.787.183","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1080\/00016340902971458","article-title":"Mutational analysis of the PTEN gene in women with premature ovarian failure","volume":"7","author":"Shimizu","year":"2009","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2015100609161175000_21.6.787.184","first-page":"23","article-title":"Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations","volume":"4","author":"Simpson","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"2015100609161175000_21.6.787.185","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1429.019"},{"key":"2015100609161175000_21.6.787.186","doi-asserted-by":"crossref","first-page":"4700 pp","DOI":"10.1016\/B978-0-12-383834-6.00092-6","article-title":"Disorders of the gonads, genital tract, and genitalia","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"Simpson","year":"2013"},{"key":"2015100609161175000_21.6.787.187","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-0659-8_3"},{"key":"2015100609161175000_21.6.787.188","volume-title":"Genetics in Obstetrics and Gynecology","author":"Simpson","year":"2003"},{"key":"2015100609161175000_21.6.787.189","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5","article-title":"Ovarian differentiation and gonadal failure","volume":"4","author":"Simpson","year":"1999","journal-title":"Am J Med Genet"},{"key":"2015100609161175000_21.6.787.190","unstructured":"Sparks SE , Krasnewich DM . PMM2-CDG CDG-Ia GeneReviews\u2122 [Internet]. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1110\/ . 2005."},{"key":"2015100609161175000_21.6.787.191","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/ajmg.a.33243","article-title":"X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers","volume":"2","author":"Spath","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2015100609161175000_21.6.787.192","first-page":"418","article-title":"An encyclopedia of mouse DNA elements (Mouse ENCODE)","volume":"8","author":"Stamatoyannopoulos","year":"2012","journal-title":"Genome Biol"},{"key":"2015100609161175000_21.6.787.193","doi-asserted-by":"crossref","first-page":"770","DOI":"10.7326\/0003-4819-133-10-200011210-00009","article-title":"Mortality rates among carriers of ataxia-telangiectasia mutant alleles","volume":"10","author":"Su","year":"2000","journal-title":"Ann Intern Med"},{"key":"2015100609161175000_21.6.787.194","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.fertnstert.2007.11.085","article-title":"Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns","volume":"2","author":"Sugawa","year":"2009","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.195","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.mce.2004.05.002","article-title":"Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)","volume":"1-2","author":"Sundblad","year":"2004","journal-title":"Mol Cell Endocrinol"},{"key":"2015100609161175000_21.6.787.196","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S0015-0282(00)01673-3","article-title":"Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome","volume":"1","author":"Takakura","year":"2001","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.197","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/S0015-0282(00)01539-9","article-title":"Mutation analysis of the growth differentiation factor-9 and-9B genes in patients with premature ovarian failure and polycystic ovary syndrome","volume":"5","author":"Takebayashi","year":"2000","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.198","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1080\/10425170600805433","article-title":"HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells","volume":"3","author":"Tanaka","year":"2006","journal-title":"DNA Seq"},{"key":"2015100609161175000_21.6.787.199","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-8"},{"key":"2015100609161175000_21.6.787.200","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/humrep\/deq073","article-title":"Variants of the BMP15 gene in a cohort of patients with premature ovarian failure","volume":"6","author":"Tiotiu","year":"2010","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.201","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1055\/s-2001-14941","article-title":"Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome","volume":"4","author":"Tong","year":"2001","journal-title":"Horm Metab Res"},{"key":"2015100609161175000_21.6.787.202","doi-asserted-by":"crossref","first-page":"2932","DOI":"10.1016\/j.fertnstert.2010.06.049","article-title":"Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency","volume":"7","author":"Tong","year":"2010","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.203","doi-asserted-by":"publisher","DOI":"10.1097\/GME.0000000000000340"},{"key":"2015100609161175000_21.6.787.204","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1126\/science.1085222","article-title":"Conserved role of nanos proteins in germ cell development","volume":"5637","author":"Tsuda","year":"2003","journal-title":"Science"},{"key":"2015100609161175000_21.6.787.205","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/ng.612","article-title":"A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese","volume":"8","author":"Uno","year":"2010","journal-title":"Nat Genet"},{"key":"2015100609161175000_21.6.787.206","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1093\/humrep\/14.10.2455","article-title":"Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?","volume":"10","author":"Van Kasteren","year":"1999","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.207","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.09.026"},{"key":"2015100609161175000_21.6.787.208","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/BF03346407","article-title":"Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype","volume":"6","author":"Vilodre","year":"2008","journal-title":"J Endocrinol Invest"},{"key":"2015100609161175000_21.6.787.209","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1007\/BF01800204","article-title":"Long-term prognosis in galactosaemia: results of a survey of 350 cases","volume":"6","author":"Waggoner","year":"1990","journal-title":"J Inherit Metab Dis"},{"key":"2015100609161175000_21.6.787.210","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050891","article-title":"Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)","volume":"6","author":"Wang","year":"1998","journal-title":"Hum Genet"},{"key":"2015100609161175000_21.6.787.211","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A","article-title":"Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients","volume":"1","author":"Wang","year":"2001","journal-title":"Am J Med Genet"},{"key":"2015100609161175000_21.6.787.212","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1016\/S0015-0282(02)04351-0","article-title":"Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure","volume":"6","author":"Wang","year":"2002","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.213","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1093\/molehr\/gap046","article-title":"Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure","volume":"9","author":"Wang","year":"2009","journal-title":"Mol Hum Reprod"},{"key":"2015100609161175000_21.6.787.214","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.rbmo.2010.04.025","article-title":"Analysis of cyclin-dependent kinase inhibitor 1B mutation in Han Chinese women with premature ovarian failure","volume":"2","author":"Wang","year":"2010","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.215","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1111\/j.1365-2265.2009.03613.x","article-title":"Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure","volume":"1","author":"Wang","year":"2010","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2015100609161175000_21.6.787.216","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.rbmo.2010.11.008","article-title":"New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients","volume":"3","author":"Wang","year":"2011","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.217","first-page":"175","article-title":"Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women","volume":"2","author":"Wang","year":"2012","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.218","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1056\/NEJMc1310150","article-title":"Mutations in HFM1 in recessive primary ovarian insufficiency","volume":"10","author":"Wang","year":"2014","journal-title":"N Engl J Med"},{"key":"2015100609161175000_21.6.787.219","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.rbmo.2014.08.001","article-title":"Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure","volume":"5","author":"Wang","year":"2014","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.220","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1016\/j.fertnstert.2006.03.054","article-title":"Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure","volume":"5","author":"Watkins","year":"2006","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.221","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.fertnstert.2006.09.004","article-title":"The FMR1 premutation and reproduction","volume":"3","author":"Wittenberger","year":"2007","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.222","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.rbmo.2013.01.004","article-title":"FSH receptor gene variants are rarely associated with premature ovarian failure","volume":"4","author":"Woad","year":"2013","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.223","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.ajhg.2014.11.002","article-title":"MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability","volume":"6","author":"Wood-Trageser","year":"2014","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.224","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2013.368"},{"key":"2015100609161175000_21.6.787.225","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1210\/mend.15.6.0662","article-title":"Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function","volume":"6","author":"Yan","year":"2001","journal-title":"Mol Endocrinol"},{"key":"2015100609161175000_21.6.787.226","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/humrep\/det384","article-title":"Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency","volume":"12","author":"Yoon","year":"2013","journal-title":"Hum Reprod"},{"key":"2015100609161175000_21.6.787.227","first-page":"151","article-title":"A study of hypergonadotropic secondary amenorrhea with cytogenetics","volume":"28","author":"Zhang","year":"2003","journal-title":"J Chongqing Med Univ"},{"key":"2015100609161175000_21.6.787.228","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1038\/ncb1481","article-title":"Sall4 modulates embryonic stem cell pluripotency and early embryonic development by the transcriptional regulation of Pou5f1","volume":"10","author":"Zhang","year":"2006","journal-title":"Nat Cell Biol"},{"key":"2015100609161175000_21.6.787.229","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1080\/00016340701269492","article-title":"Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure","volume":"5","author":"Zhang","year":"2007","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2015100609161175000_21.6.787.230","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1016\/j.fertnstert.2007.01.021","article-title":"Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure","volume":"5","author":"Zhao","year":"2007","journal-title":"Fertil Steril"},{"key":"2015100609161175000_21.6.787.231","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/j.ajhg.2008.04.018","article-title":"Transcription factor FIGLA is mutated in patients with premature ovarian failure","volume":"6","author":"Zhao","year":"2008","journal-title":"Am J Hum Genet"},{"key":"2015100609161175000_21.6.787.232","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1111\/j.1600-0412.2011.01118.x","article-title":"PTEN gene analysis in premature ovarian failure patients","volume":"6","author":"Zhao","year":"2011","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2015100609161175000_21.6.787.233","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.rbmo.2013.03.017","article-title":"Mutational analysis of SKP2 and P27 in Chinese Han women with premature ovarian failure","volume":"1","author":"Zhao","year":"2013","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.234","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2014.11.011"},{"key":"2015100609161175000_21.6.787.235","first-page":"841","article-title":"Genome-wide copy number scan in Chinese patients with premature ovarian failure","volume":"6","author":"Zhen","year":"2013","journal-title":"Beijing Da Xue Xue Bao"},{"key":"2015100609161175000_21.6.787.236","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.rbmo.2009.10.013","article-title":"GPR3 may not be a potential candidate gene for premature ovarian failure","volume":"1","author":"Zhou","year":"2010","journal-title":"Reprod Biomed Online"},{"key":"2015100609161175000_21.6.787.237","first-page":"1020","article-title":"The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types","volume":"5","author":"Zlotogora","year":"1983","journal-title":"Am J Hum Genet"}],"container-title":["Human Reproduction Update"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/humupd\/article-pdf\/21\/6\/787\/17158400\/dmv036.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T06:56:27Z","timestamp":1718002587000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humupd\/article-lookup\/doi\/10.1093\/humupd\/dmv036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,4]]},"references-count":237,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2015,10,6]]},"published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1093\/humupd\/dmv036"],"URL":"https:\/\/doi.org\/10.1093\/humupd\/dmv036","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725699274.793539438","asserted-by":"object"}]},"ISSN":["1355-4786","1460-2369"],"issn-type":[{"value":"1355-4786","type":"print"},{"value":"1460-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,4]]}}}