{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:37:21Z","timestamp":1790473041851,"version":"4.1.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008131","name":"Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008131","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2010,3]]},"DOI":"10.1016\/j.ejmg.2009.12.005","type":"journal-article","created":{"date-parts":[[2010,1,11]],"date-time":"2010-01-11T04:03:35Z","timestamp":1263182615000},"page":"55-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":49,"title":["Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy"],"prefix":"10.1016","volume":"53","author":[{"given":"Markus","family":"Draaken","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Schramm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrika","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Boemers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Karoline","family":"Ebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"R\u00f6sch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Schr\u00f6der","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raimund","family":"Stein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Moebus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietlinde","family":"Stienen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus M.","family":"N\u00f6then","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2009.12.005_bib1","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/tera.1420360210","article-title":"Epidemiology of bladder exstrophy and epispadias: a communication from the international clearinghouse for birth defects monitoring systems","volume":"36","author":"Anonymous","year":"1987","journal-title":"Teratology"},{"key":"10.1016\/j.ejmg.2009.12.005_bib2","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/ng.333","article-title":"Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24","volume":"4","author":"Birnbaum","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib3","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.4161\/cc.8.10.8766","article-title":"p63 regulation by microRNAs","volume":"8","author":"Blandino","year":"2009","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ejmg.2009.12.005_bib4","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/ajmg.1211","article-title":"Exstrophy of the cloaca and the OEIS complex: one and the same","volume":"99","author":"Carey","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib5","doi-asserted-by":"crossref","first-page":"4783","DOI":"10.1242\/dev.02621","article-title":"\u0394Np63 plays an anti-apoptotic role in ventral bladder development","volume":"133","author":"Cheng","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2009.12.005_bib6","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1093\/nar\/gkm076","article-title":"QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data","volume":"35","author":"Colella","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2009.12.005_bib7","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib8","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1086\/378818","article-title":"Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients","volume":"73","author":"Ensenauer","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib9","series-title":"Campbell's Urology","first-page":"2136","article-title":"Exstrophy, epispadias, and other bladder anomalies","author":"Gearhart","year":"2002"},{"key":"10.1016\/j.ejmg.2009.12.005_bib10","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","article-title":"Detection of large-scale variation in the human genome","volume":"36","author":"Iafrate","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib11","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/S0002-9440(10)64387-8","article-title":"p63 coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract","volume":"161","author":"Ince","year":"2002","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ejmg.2009.12.005_bib12","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/humu.20640","article-title":"Detailed analysis of 22q11.2 with a high density MLPA probe set","volume":"29","author":"Jalali","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2009.12.005_bib13","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0022-3476(82)80116-9","article-title":"The association of the DiGeorge anomalad with partial monosomy of chromosome 22","volume":"101","author":"Kelley","year":"1982","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2009.12.005_bib14","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/hmg\/ddh176","article-title":"Full spectrum of malformations in velo-cardio-facial syndrome\/DiGeorge syndrome mouse models by altering Tbx1 dosage","volume":"13","author":"Liao","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib15","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/bdra.20557","article-title":"Bladder exstrophy-epispadias complex","volume":"85","author":"Ludwig","year":"2009","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2009.12.005_bib16","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","article-title":"Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!","volume":"3","author":"McDonald-McGinn","year":"2001","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2009.12.005_bib17","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1097\/01.ju.0000154821.21521.9b","article-title":"Contemporary epidemiology of bladder exstrophy in the United States","volume":"173","author":"Nelson","year":"2005","journal-title":"J. Urol."},{"key":"10.1016\/j.ejmg.2009.12.005_bib18","doi-asserted-by":"crossref","first-page":"7729","DOI":"10.1073\/pnas.0600206103","article-title":"TBX1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome","volume":"103","author":"Paylor","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"10.1016\/j.ejmg.2009.12.005_bib19","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","article-title":"Microduplication 22q11.2: a new chromosomal syndrome","volume":"52","author":"Portno\u00ef","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib20","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s00431-008-0852-5","article-title":"Possible association of down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature","volume":"168","author":"Reutter","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2009.12.005_bib21","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.a.20057","article-title":"Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature","volume":"120A","author":"Reutter","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2009.12.005_bib22","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1002\/ajmg.a.31975","article-title":"Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology","volume":"143A","author":"Reutter","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2009.12.005_bib23","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF00274675","article-title":"In complete trisomy 22.I. Familial 11\/22 translocation with 3:1 meiotic disjunction: delineation of a common clinical picture and\u00a0report of nine new cases from six families","volume":"56","author":"Schinzel","year":"1981","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib24","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1067\/mhj.2002.123579","volume":"144","author":"Schmermund","year":"2002","journal-title":"Am.\u00a0Heart J."},{"key":"10.1016\/j.ejmg.2009.12.005_bib25","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1146\/annurev.genet.34.1.297","article-title":"Molecular mechanisms for constitutional chromosomal rearrangements in humans","volume":"34","author":"Shaffer","year":"2000","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib26","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1101\/gr.5986507","article-title":"Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms","volume":"17","author":"Shaikh","year":"2007","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2009.12.005_bib27","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/S0022-5347(17)49605-4","article-title":"The inheritance of the exstrophy-epispadias complex","volume":"132","author":"Shapiro","year":"1984","journal-title":"J. Urol."},{"key":"10.1016\/j.ejmg.2009.12.005_bib28","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome","volume":"15","author":"Shprintzen","year":"1978","journal-title":"Cleft Palate J."},{"key":"10.1016\/j.ejmg.2009.12.005_bib29","doi-asserted-by":"crossref","first-page":"R61","DOI":"10.1016\/j.cub.2004.12.057","article-title":"MicroRNA biogenesis: drosha can't cut it with a part a partner","volume":"15","author":"Tomari","year":"2005","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ejmg.2009.12.005_bib30","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1038\/sj.ejhg.5201819","article-title":"Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation","volume":"15","author":"Torres-Juan","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib31","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","article-title":"Role of TBX1 in human del22q11.2 syndrome","volume":"362","author":"Yagi","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2009.12.005_bib32","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1002\/ajmg.1320070412","article-title":"Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction","volume":"7","author":"Zackai","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2009.12.005_bib33","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","article-title":"Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions","volume":"80","author":"Zweier","year":"2007","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209001773?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209001773?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:02Z","timestamp":1761709022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721209001773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["S1769721209001773"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.12.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.12.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}