{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:21:17Z","timestamp":1760782877705},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2006,8,23]],"date-time":"2006-08-23T00:00:00Z","timestamp":1156291200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1038\/sj.ejhg.5201707","type":"journal-article","created":{"date-parts":[[2006,8,23]],"date-time":"2006-08-23T11:43:31Z","timestamp":1156333411000},"page":"1317-1320","source":"Crossref","is-referenced-by-count":15,"title":["Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3"],"prefix":"10.1038","volume":"14","author":[{"given":"Andreas","family":"Tzschach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Hoeltzenbein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinna","family":"Menzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Ocker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goetz","family":"Wurster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Raynaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans-Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helmut","family":"Heilbronner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,8,23]]},"reference":[{"key":"BF5201707_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/sj.ejhg.5201506","volume":"14","author":"L Zhu","year":"2006","unstructured":"Zhu L, Belmont JW, Ware SM : Genetics of human heterotaxias. Eur J Hum Genet 2006; 14: 17\u201325.","journal-title":"Eur J Hum Genet"},{"key":"BF5201707_CR2","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1038\/ng1197-305","volume":"17","author":"M Gebbia","year":"1997","unstructured":"Gebbia M, Ferrero GB, Pilia G et al: X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997; 17: 305\u2013308.","journal-title":"Nat Genet"},{"key":"BF5201707_CR3","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1038\/sj.ejhg.5200526","volume":"8","author":"A Megarbane","year":"2000","unstructured":"Megarbane A, Salem N, Stephan E et al: X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000; 8: 704\u2013708.","journal-title":"Eur J Hum Genet"},{"key":"BF5201707_CR4","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1086\/380998","volume":"74","author":"SM Ware","year":"2004","unstructured":"Ware SM, Peng J, Zhu L et al: Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93\u2013105.","journal-title":"Am J Hum Genet"},{"key":"BF5201707_CR5","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1086\/514857","volume":"61","author":"GB Ferrero","year":"1997","unstructured":"Ferrero GB, Gebbia M, Pilia G et al: A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 1997; 61: 395\u2013401.","journal-title":"Am J Hum Genet"},{"key":"BF5201707_CR6","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1038\/ng1293-403","volume":"5","author":"B Casey","year":"1993","unstructured":"Casey B, Devoto M, Jones KL, Ballabio A : Mapping a gene for familial situs abnormalities to human chromosome Xq24\u2212q27.1. Nat Genet 1993; 5: 403\u2013407.","journal-title":"Nat Genet"},{"key":"BF5201707_CR7","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/sj.ejhg.5201213","volume":"13","author":"B Fritz","year":"2005","unstructured":"Fritz B, Kunz J, Knudsen GP et al: Situs ambiguus in a female foetus with balanced (X;21) translocation \u2013 evidence for functional nullisomy of the ZIC3 gene? Eur J Hum Genet 2005; 13: 34\u201340.","journal-title":"Eur J Hum Genet"},{"key":"BF5201707_CR8","first-page":"271","volume":"36","author":"J Wirth","year":"1999","unstructured":"Wirth J, Nothwang HG, van der Maarel S et al: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 1999; 36: 271\u2013278.","journal-title":"J Med Genet"},{"key":"BF5201707_CR9","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW : Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229\u20131239.","journal-title":"Am J Hum Genet"},{"key":"BF5201707_CR10","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/ajmg.1320420205","volume":"42","author":"M Schmidt","year":"1992","unstructured":"Schmidt M, Du Sart D : Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet 1992; 42: 161\u2013169.","journal-title":"Am J Med Genet"},{"key":"BF5201707_CR11","doi-asserted-by":"publisher","first-page":"3145","DOI":"10.1093\/hmg\/11.25.3145","volume":"11","author":"AJ Sharp","year":"2002","unstructured":"Sharp AJ, Spotswood HT, Robinson DO, Turner BM, Jacobs PA : Molecular and cytogenetic analysis of the spreading of X inactivation in X; autosome translocations. Hum Mol Genet 2002; 11: 3145\u20133156.","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201707.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201707","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201707.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:37:19Z","timestamp":1684373839000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,23]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["BF5201707"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201707","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,23]]}}}