{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:10:39Z","timestamp":1791220239743,"version":"4.1.0"},"reference-count":34,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,12,1]]},"DOI":"10.1136\/jmg.38.12.e45","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:32:19Z","timestamp":1027751539000},"page":"e45-e45","source":"Crossref","is-referenced-by-count":138,"title":["Mutation analysis of <i>TBX1<\/i> in non-deleted patients with features of DGS\/VCFS or isolated cardiovascular defects"],"prefix":"10.1136","volume":"38","author":[{"given":"Weilong","family":"Gong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoshanna","family":"Gottlieb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joelle","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Blescia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Dietz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Goldmuntz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia L","family":"Budarf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,12,1]]},"reference":[{"key":"2025101723175670000_38.12.e45.1","doi-asserted-by":"crossref","unstructured":"Emanuel BS Budarf ML Scambler PJ (1999) The genetic basis of conotruncal cardiac defects. the chromosome 22q11.2 deletion. in Heart development. eds Harvey R Rosenthal N (Academic Press, New York), pp 463\u2013478.","DOI":"10.1016\/B978-012329860-7\/50028-3"},{"key":"2025101723175670000_38.12.e45.2","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"2025101723175670000_38.12.e45.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"2025101723175670000_38.12.e45.4","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.93.9.1702"},{"key":"2025101723175670000_38.12.e45.5","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":"2025101723175670000_38.12.e45.6","doi-asserted-by":"crossref","first-page":"7486","DOI":"10.1136\/jmg.32.9.746","article-title":"Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.","volume":"32","author":"Goodship","year":"1995","journal-title":"J Med Genet"},{"key":"2025101723175670000_38.12.e45.7","doi-asserted-by":"publisher","DOI":"10.1038\/43903"},{"key":"2025101723175670000_38.12.e45.8","first-page":"10","article-title":"Variability and pathogenesis of DiGeorge syndrome in mice.","volume":"67","author":"Lindsay","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2025101723175670000_38.12.e45.9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(199801)20:1<9::AID-BIES4>3.0.CO;2-Q"},{"key":"2025101723175670000_38.12.e45.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01693-5"},{"key":"2025101723175670000_38.12.e45.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-311"},{"key":"2025101723175670000_38.12.e45.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"2025101723175670000_38.12.e45.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-21"},{"key":"2025101723175670000_38.12.e45.14","doi-asserted-by":"publisher","DOI":"10.1038\/85845"},{"key":"2025101723175670000_38.12.e45.15","doi-asserted-by":"publisher","DOI":"10.1038\/35065105"},{"key":"2025101723175670000_38.12.e45.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00247-1"},{"key":"2025101723175670000_38.12.e45.17","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(98)00259-9"},{"key":"2025101723175670000_38.12.e45.18","unstructured":"McElhinney DB, Clark BJ, Weinberg PM, Kenton ML, McDonald-McGinn DM, Driscoll DA, Zackai EH, Goldmuntz E. Chromosome 22q11 deletions in patients with isolated anomalies of aortic arch sidedness or branching. J Am Coll Cardiol(in press).."},{"key":"2025101723175670000_38.12.e45.19","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4829"},{"key":"2025101723175670000_38.12.e45.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"2025101723175670000_38.12.e45.21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.21.10325"},{"key":"2025101723175670000_38.12.e45.22","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.4.1681"},{"key":"2025101723175670000_38.12.e45.23","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.2919"},{"key":"2025101723175670000_38.12.e45.24","doi-asserted-by":"publisher","DOI":"10.1086\/302417"},{"key":"2025101723175670000_38.12.e45.25","doi-asserted-by":"crossref","first-page":"4763","DOI":"10.1002\/j.1460-2075.1995.tb00158.x","article-title":"The T protein encoded by Brachyury is a tissue-specific transcription factor.","volume":"14","author":"Kispert","year":"1995","journal-title":"EMBO J"},{"key":"2025101723175670000_38.12.e45.26","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.18.10212"},{"key":"2025101723175670000_38.12.e45.27","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00417-0"},{"key":"2025101723175670000_38.12.e45.28","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00282-3"},{"key":"2025101723175670000_38.12.e45.29","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5261.548"},{"key":"2025101723175670000_38.12.e45.30","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.945"},{"key":"2025101723175670000_38.12.e45.31","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"2025101723175670000_38.12.e45.32","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-164"},{"key":"2025101723175670000_38.12.e45.33","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.791"},{"key":"2025101723175670000_38.12.e45.34","doi-asserted-by":"publisher","DOI":"10.1086\/514856"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.12.e45","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:18:05Z","timestamp":1760768285000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.12.e45"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12,1]]},"references-count":34,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2001,12,1]]},"published-print":{"date-parts":[[2001,12,1]]}},"alternative-id":["10.1136\/jmg.38.12.e45"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.12.e45","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12,1]]}}}