{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T13:16:37Z","timestamp":1789996597880,"version":"4.0.1"},"reference-count":24,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1016\/j.ejmg.2010.03.005","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T10:40:06Z","timestamp":1269600006000},"page":"122-126","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["Mutational study of the MAMLD1-gene in hypospadias"],"prefix":"10.1016","volume":"53","author":[{"given":"Yougen","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanh T.T.","family":"Thai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Lundin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Lagerstedt-Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengtian","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Markljung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agneta","family":"Nordenskj\u00f6ld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.03.005_bib1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1159\/000015284","article-title":"The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case","volume":"85","author":"Bartsch","year":"1999","journal-title":"Cytogenet. Cell Genet."},{"key":"10.1016\/j.ejmg.2010.03.005_bib2","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1530\/EJE-07-0793","article-title":"Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias","volume":"158","author":"Beleza-Meireles","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ejmg.2010.03.005_bib3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ejmg.2010.03.005_bib4","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2010.03.005_bib5","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1126\/science.1073774","article-title":"Predictive identification of exonic splicing enhancers in human genes","volume":"297","author":"Fairbrother","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2010.03.005_bib6","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1038\/ng1900","article-title":"CXorf6 is a causative gene for hypospadias","volume":"38","author":"Fukami","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2010.03.005_bib7","doi-asserted-by":"crossref","first-page":"5525","DOI":"10.1074\/jbc.M703289200","article-title":"Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence","volume":"283","author":"Fukami","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2010.03.005_bib8","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2010.03.005_bib9","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0092-8674(00)80542-5","article-title":"A perfect message: RNA surveillance and nonsense-mediated decay","volume":"96","author":"Hentze","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2010.03.005_bib10","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/hmg\/5.1.139","article-title":"Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430\u00a0kb region","volume":"5","author":"Hu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2010.03.005_bib11","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1530\/EJE-08-0085","article-title":"Mutations of CXorf6 are associated with a range of severities of hypospadias","volume":"159","author":"Kalfa","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ejmg.2010.03.005_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1651-2227.1982.tb09577.x","article-title":"An epidemiological study of hypospadias in Sweden","volume":"293","author":"Kallen","year":"1982","journal-title":"Acta Paediatr. Scand. Suppl."},{"key":"10.1016\/j.ejmg.2010.03.005_bib13","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2009.2","article-title":"Protein structure prediction on the web: a case study using the phyre server","volume":"4","author":"Kelley","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ejmg.2010.03.005_bib14","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1006\/geno.1997.4662","article-title":"Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy","volume":"41","author":"Laporte","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.ejmg.2010.03.005_bib15","first-page":"245","article-title":"MAMLD1 (CXorf6): a new gene involved in hypospadias","volume":"71","author":"Ogata","year":"2009","journal-title":"Horm. Res."},{"key":"10.1016\/j.ejmg.2010.03.005_bib16","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1369\/jhc.4B6409.2005","article-title":"Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR)","volume":"53","author":"Ogilvie","year":"2005","journal-title":"J. Histochem. Cytochem."},{"key":"10.1016\/j.ejmg.2010.03.005_bib17","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1289\/ehp.99107297","article-title":"International trends in rates of hypospadias and cryptorchidism","volume":"107","author":"Paulozzi","year":"1999","journal-title":"Environ. Health Perspect."},{"key":"10.1016\/j.ejmg.2010.03.005_bib18","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ejmg.2010.03.005_bib19","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1530\/ror.0.0050136","article-title":"Function of steroidogenic factor 1 during development and differentiation of the reproductive system","volume":"5","author":"Sadovsky","year":"2000","journal-title":"Rev. Reprod."},{"key":"10.1016\/j.ejmg.2010.03.005_bib20","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1055\/s-2002-35386","article-title":"Disorders of androgen action","volume":"20","author":"Sultan","year":"2002","journal-title":"Semin. Reprod. Med."},{"key":"10.1016\/j.ejmg.2010.03.005_bib21","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1093\/humupd\/7.3.314","article-title":"Disorders linked to insufficient androgen action in male children","volume":"7","author":"Sultan","year":"2001","journal-title":"Hum. Reprod. Update"},{"key":"10.1016\/j.ejmg.2010.03.005_bib22","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1172\/JCI115954","article-title":"Molecular genetics of steroid 5 alpha-reductase 2 deficiency","volume":"90","author":"Thigpen","year":"1992","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ejmg.2010.03.005_bib23","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1055\/s-2002-35381","article-title":"Molecular endocrinology of sex differentiation","volume":"20","author":"Warne","year":"2002","journal-title":"Semin. Reprod. Med."},{"key":"10.1016\/j.ejmg.2010.03.005_bib24","first-page":"577","article-title":"Steroid 5 alpha-reductase 2 deficiency","volume":"14","author":"Wilson","year":"1993","journal-title":"Endocr. Rev."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000212?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000212?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:08Z","timestamp":1761709028000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721210000212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["S1769721210000212"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.03.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutational study of the MAMLD1-gene in hypospadias","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.03.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}