{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:37:47Z","timestamp":1791898667390,"version":"4.3.4"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T00:00:00Z","timestamp":1117584000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T00:00:00Z","timestamp":1117584000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["bmn.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Genetics & Development"],"published-print":{"date-parts":[[2005,6]]},"DOI":"10.1016\/j.gde.2005.03.001","type":"journal-article","created":{"date-parts":[[2005,3,29]],"date-time":"2005-03-29T07:35:21Z","timestamp":1112081721000},"page":"279-284","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":120,"title":["Dissecting contiguous gene defects: TBX1"],"prefix":"10.1016","volume":"15","author":[{"given":"Antonio","family":"Baldini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gde.2005.03.001_bib1","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","article-title":"The 22q11 deletion syndromes","volume":"9","author":"Scambler","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","article-title":"Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis","volume":"9","author":"Shaikh","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib3","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","article-title":"Low-copy repeats mediate the common 3-Mb deletion in patients with velo- cardio-facial syndrome","volume":"64","author":"Edelmann","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib4","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1038\/35098574","article-title":"Chromosomal microdeletions: Dissecting del22q11 syndrome","volume":"2","author":"Lindsay","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib5","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/43900","article-title":"Congenital heart disease in mice deficient for the DiGeorge syndrome region","volume":"401","author":"Lindsay","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.gde.2005.03.001_bib6","doi-asserted-by":"crossref","first-page":"11428","DOI":"10.1073\/pnas.201127298","article-title":"Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge\/del22q11 syndromes","volume":"98","author":"Taddei","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2005.03.001_bib7","doi-asserted-by":"crossref","first-page":"2645","DOI":"10.1093\/hmg\/10.23.2645","article-title":"Mice deleted for the DiGeorge\/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments","volume":"10","author":"Paylor","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib8","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","article-title":"DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1","volume":"27","author":"Jerome","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib9","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/35065105","article-title":"Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice","volume":"410","author":"Lindsay","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.gde.2005.03.001_bib10","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0092-8674(01)00247-1","article-title":"TBX1 is responsible for cardiovascular defects in velo-cardio-facial\/DiGeorge syndrome","volume":"104","author":"Merscher","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.gde.2005.03.001_bib11_1","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.gde.2005.03.001_bib12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/85855","article-title":"Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome","volume":"27","author":"Guris","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib13","doi-asserted-by":"crossref","first-page":"E45","DOI":"10.1136\/jmg.38.12.e45","article-title":"Mutation analysis of TBX1 in non-deleted patients with features of DGS\/VCFS or isolated cardiovascular defects","volume":"38","author":"Gong","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib14_1","doi-asserted-by":"crossref","first-page":"3217","DOI":"10.1242\/dev.01174","article-title":"Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract","volume":"131","author":"Xu","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.gde.2005.03.001_bib15","doi-asserted-by":"crossref","first-page":"4605","DOI":"10.1242\/dev.129.19.4605","article-title":"A genetic link between Tbx1 and fibroblast growth factor signaling","volume":"129","author":"Vitelli","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.gde.2005.03.001_bib16_1","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.1242\/dev.01399","article-title":"Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors","volume":"131","author":"Hu","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.gde.2005.03.001_bib17","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1101\/sqb.2002.67.327","article-title":"Genetic dissection of the DiGeorge syndrome phenotype","volume":"67","author":"Vitelli","year":"2002","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"10.1016\/j.gde.2005.03.001_bib18_1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1101\/gad.1048903","article-title":"Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer","volume":"17","author":"Yamagishi","year":"2003","journal-title":"Genes Dev"},{"key":"10.1016\/j.gde.2005.03.001_bib19","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ydbio.2003.10.024","article-title":"Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse","volume":"267","author":"Brown","year":"2004","journal-title":"Dev Biol"},{"key":"10.1016\/j.gde.2005.03.001_bib20","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.gde.2005.03.001_bib21","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.gde.2005.03.001_bib22","doi-asserted-by":"crossref","first-page":"2829","DOI":"10.1093\/hmg\/ddh304","article-title":"The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis","volume":"13","author":"Kelly","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib23","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/hmg\/11.8.915","article-title":"Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways","volume":"11","author":"Vitelli","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib24_1","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1093\/hmg\/ddg216","article-title":"TBX1 is required for inner ear morphogenesis","volume":"12","author":"Vitelli","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2005.03.001_bib25_1","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1242\/dev.01067","article-title":"Suppression of neural fate and control of inner ear morphogenesis by Tbx1","volume":"131","author":"Raft","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.gde.2005.03.001_bib26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.mod.2004.08.007","article-title":"The relative role of the T-domain and flanking sequences for developmental control and transcriptional regulation in protein chimeras of Drosophila OMB and ORG-1","volume":"122","author":"Porsch","year":"2005","journal-title":"Mech Dev"}],"container-title":["Current Opinion in Genetics & Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X05000493?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X05000493?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T11:29:22Z","timestamp":1760700562000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0959437X05000493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["S0959437X05000493"],"URL":"https:\/\/doi.org\/10.1016\/j.gde.2005.03.001","relation":{},"ISSN":["0959-437X"],"issn-type":[{"value":"0959-437X","type":"print"}],"subject":[],"published":{"date-parts":[[2005,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dissecting contiguous gene defects: TBX1","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Genetics & Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gde.2005.03.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}