{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:38:17Z","timestamp":1790473097130,"version":"4.1.0"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,11,19]],"date-time":"2020-11-19T00:00:00Z","timestamp":1605744000000},"content-version":"am","delay-in-days":323,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","maturitas.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Maturitas"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.maturitas.2019.10.011","type":"journal-article","created":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T02:23:33Z","timestamp":1573266213000},"page":"78-86","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":40,"special_numbering":"C","title":["Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility"],"prefix":"10.1016","volume":"131","author":[{"given":"Sylvie","family":"Jaillard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajini","family":"Sreenivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Beaumont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorjana","family":"Robevska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"Knarston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Akloul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"van den Bergen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany","family":"Croft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Jouve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia R.","family":"Grover","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Duros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Pimentel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc-Antoine","family":"Belaud-Rotureau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie L.","family":"Ayers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9lia","family":"Ravel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena J.","family":"Tucker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Sinclair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.maturitas.2019.10.011_bib0005","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1093\/humrep\/det033","article-title":"Hypoandrogenism in association with diminished functional ovarian reserve","volume":"28","author":"Gleicher","year":"2013","journal-title":"Hum Reprod Oxf Engl"},{"key":"10.1016\/j.maturitas.2019.10.011_bib0010","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1111\/jog.13633","article-title":"Clinical application of serum anti-M\u00fcllerian hormone as an ovarian reserve marker: a review of recent studies","volume":"44","author":"Iwase","year":"2018","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0015","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s10815-013-9975-3","article-title":"Antral follicle count determines poor ovarian response better than anti-M\u00fcllerian hormone but age is the only predictor for live birth in in vitro fertilization cycles","volume":"30","author":"Mutlu","year":"2013","journal-title":"J. Assist. Reprod. Genet."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0020","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.jogoh.2018.10.015","article-title":"Anti M\u00fcllerian Hormone: more than a biomarker of female reproductive function","volume":"48","author":"Victoria","year":"2019","journal-title":"J. Gynecol. Obstet. Hum. Reprod."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0025","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.1007\/s10815-015-0595-y","article-title":"Diminished ovarian reserve, premature ovarian failure, poor ovarian responder--a plea for universal definitions","volume":"32","author":"Cohen","year":"2015","journal-title":"J. Assist. Reprod. Genet."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0030","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s10815-017-1058-4","article-title":"Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR","volume":"35","author":"Pastore","year":"2018","journal-title":"J. Assist. Reprod. Genet."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0035","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1210\/er.2016-1047","article-title":"Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic Spectrum","volume":"37","author":"Tucker","year":"2016","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0040","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1093\/humrep\/det291","article-title":"Identification of a mutation in GDF9 as a novel cause of diminished ovarian reserve in young women","volume":"28","author":"Wang","year":"2013","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0045","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s11033-016-4025-8","article-title":"Identification of the key regulating genes of diminished ovarian reserve (DOR) by network and gene ontology analysis","volume":"43","author":"Pashaiasl","year":"2016","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0050","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.ando.2010.02.013","article-title":"NR5A1\/SF-1 and development and function of the ovary","volume":"71","author":"Bashamboo","year":"2010","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"10.1016\/j.maturitas.2019.10.011_bib0055","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1056\/NEJMoa0806228","article-title":"Mutations in NR5A1 associated with ovarian insufficiency","volume":"360","author":"Louren\u00e7o","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0060","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1210\/me.2003-0404","article-title":"Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function","volume":"18","author":"Jeyasuria","year":"2004","journal-title":"Mol. Endocrinol. Baltim. Md."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0065","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/s41431-018-0202-7","article-title":"Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?","volume":"26","author":"Camats","year":"2018","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"10.1016\/j.maturitas.2019.10.011_bib0070","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/humu.23354","article-title":"Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development","volume":"39","author":"Robevska","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0075","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.ajhg.2010.09.009","article-title":"Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1","volume":"87","author":"Bashamboo","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0080","doi-asserted-by":"crossref","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":"8","author":"Jiao","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.maturitas.2019.10.011_bib0085","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.23672","article-title":"NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients","volume":"40","author":"Knarston","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0090","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human Gene Mutation Database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0095","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0100","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13073-015-0191-x","article-title":"Cpipe: a shared variant detection pipeline designed for diagnostic settings","volume":"7","author":"Sadedin","year":"2015","journal-title":"Genome Med."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0105","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.maturitas.2019.10.011_bib0110","doi-asserted-by":"crossref","first-page":"E1017","DOI":"10.1210\/jc.2012-4111","article-title":"NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency","volume":"98","author":"Voican","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0115","doi-asserted-by":"crossref","DOI":"10.1002\/humu.23744","article-title":"TP63\u2010truncating variants cause isolated premature ovarian insufficiency","author":"Tucker","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0120","doi-asserted-by":"crossref","first-page":"E1294","DOI":"10.1210\/jc.2011-3169","article-title":"Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals","volume":"97","author":"Camats","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0125","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1210\/jc.2006-1672","article-title":"Heterozygous missense mutations in steroidogenic factor 1 (SF1\/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function","volume":"92","author":"Lin","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0130","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":"97","author":"Janse","year":"2012","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0135","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1002\/humu.23603","article-title":"Mutant NR5A1\/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer","volume":"39","author":"Sreenivasan","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.maturitas.2019.10.011_bib0140","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/ejhg.2014.130","article-title":"Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1","volume":"23","author":"Eggers","year":"2015","journal-title":"Eur. J. Hum. Genet. EJHG"}],"container-title":["Maturitas"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378512219305249?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378512219305249?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T09:16:00Z","timestamp":1759914960000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378512219305249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":28,"alternative-id":["S0378512219305249"],"URL":"https:\/\/doi.org\/10.1016\/j.maturitas.2019.10.011","relation":{},"ISSN":["0378-5122"],"issn-type":[{"value":"0378-5122","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility","name":"articletitle","label":"Article Title"},{"value":"Maturitas","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.maturitas.2019.10.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}