{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T01:43:42Z","timestamp":1768787022532,"version":"3.49.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"vor","delay-in-days":5124,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","fertstert.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Fertility and Sterility"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1016\/j.fertnstert.2007.07.1319","type":"journal-article","created":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T01:32:56Z","timestamp":1196472776000},"page":"857-859","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-K\u00fcster-Hauser syndrome"],"prefix":"10.1016","volume":"90","author":[{"given":"Juliana B.","family":"Drummond","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando M.","family":"Reis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfanga L.M.","family":"Boson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leticia F.G.","family":"Silveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria A.C.","family":"Bicalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz","family":"De Marco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.fertnstert.2007.07.1319_bib1","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1093\/humrep\/dei381","article-title":"Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging","volume":"21","author":"Oppelt","year":"2006","journal-title":"Hum Reprod"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib2","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ajmg.a.30721","article-title":"Mayer-Rokitansky-Kuester-Hauser anomaly and its associated malformations","volume":"135","author":"Pittock","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib3","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1056\/NEJMoa040533","article-title":"A WNT4 mutation associated with Mullerian-duct regression in a 46,XX woman","volume":"351","author":"Biason-Lauber","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib4","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1093\/humrep\/del360","article-title":"WNT4 deficiency\u2014a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report","volume":"22","author":"Biason-Lauber","year":"2007","journal-title":"Hum Reprod"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/17068","article-title":"Female development in mammals is regulated by Wnt-4 signalling","volume":"397","author":"Vainio","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib6","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1210\/me.2002-0362","article-title":"Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by Wnt 4 in the female developing gonad","volume":"17","author":"Mizusaki","year":"2003","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib7","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1056\/NEJMp048185","article-title":"Female development\u2014all by default?","volume":"351","author":"Hughes","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib8","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/ajmg.a.30833","article-title":"Exclusion of WNT4 as a major gene in Rokitansky-Kuster-Hauser anomaly","volume":"137","author":"Clement-Ziza","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib9","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1002\/ajmg.a.31254","article-title":"Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT4, RAR-gamma and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women","volume":"140","author":"Cheroki","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib10","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1073\/pnas.0126614100","article-title":"Color and genomic ancestry in Brazilians","volume":"200","author":"Parra","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib11","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib12","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0002-9378(98)70051-1","article-title":"Further evidence that the WT1 gene does not have a role in the development of the derivatives of the mullerian duct","volume":"179","author":"van Lingen","year":"1998","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib13","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S1083-3188(03)00124-4","article-title":"WNT7A mutations in patients with Mullerian duct abnormalities","volume":"16","author":"Timmreck","year":"2003","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib14","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1477-5751-5-4","article-title":"Role of HOXA7 to HOXA 13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)","volume":"5","author":"Burel","year":"2006","journal-title":"J Negat Results Biomed"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib15","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/molehr\/gag018","article-title":"The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina","volume":"9","author":"Klipstein","year":"2003","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib16","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/s00404-002-0456-7","article-title":"Molecular analysis of the anti-Mullerian hormone, the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"269","author":"Zenteno","year":"2004","journal-title":"Arch Gynecol Obstet"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib17","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/1096-8628(20010115)98:2<129::AID-AJMG1021>3.0.CO;2-3","article-title":"Role of anti-Mullerian hormone in congenital absence of the uterus and vagina","volume":"98","author":"Resendes","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib18","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1093\/humrep\/deh547","article-title":"DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome","volume":"20","author":"Oppelt","year":"2005","journal-title":"Hum Reprod"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib19","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1136\/jmg.39.12.876","article-title":"Thrombocytopenia-absent radius syndrome: a clinical genetic study","volume":"39","author":"Greenhalgh","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib20","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.fertnstert.2004.06.077","article-title":"Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome","volume":"83","author":"Griesinger","year":"2005","journal-title":"Fertil Steril"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib21","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.fertnstert.2005.04.012","article-title":"Hot clues to the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome?","volume":"84","author":"Childs","year":"2005","journal-title":"Fertil Steril"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib22","first-page":"549","article-title":"Concurrence of the Holt-Oram syndrome and the Rokitansky-Kuster-Hauser syndrome. A case report","volume":"32","author":"Fakih","year":"1987","journal-title":"J Reprod Med"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib23","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/humrep\/deh198","article-title":"Mayer-von Rokitansky-Kuster-Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window","volume":"19","author":"Ulrich","year":"2004","journal-title":"Hum Reprod"},{"key":"10.1016\/j.fertnstert.2007.07.1319_bib24","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.fertnstert.2005.04.014","article-title":"Hot clues to the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome?","volume":"84","author":"McDonough","year":"2005","journal-title":"Fertil Steril"}],"container-title":["Fertility and Sterility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028207029585?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028207029585?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T07:27:20Z","timestamp":1758007640000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0015028207029585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S0015028207029585"],"URL":"https:\/\/doi.org\/10.1016\/j.fertnstert.2007.07.1319","relation":{},"ISSN":["0015-0282"],"issn-type":[{"value":"0015-0282","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-K\u00fcster-Hauser syndrome","name":"articletitle","label":"Article Title"},{"value":"Fertility and Sterility","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.fertnstert.2007.07.1319","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}