{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:10:00Z","timestamp":1792062600302,"version":"4.4.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2001,3]]},"DOI":"10.1038\/85845","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T04:48:26Z","timestamp":1027658906000},"page":"286-291","source":"Crossref","is-referenced-by-count":957,"title":["DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1"],"prefix":"10.1038","volume":"27","author":[{"given":"Loydie A.","family":"Jerome","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia E.","family":"Papaioannou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0301_286_CR1","doi-asserted-by":"publisher","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","volume":"9","author":"PJ Scambler","year":"2000","unstructured":"Scambler, P.J. The 22q11 deletion syndromes. Hum. Mol. Genet. 9, 2421\u20132426 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR2","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1002\/ajmg.1320450307","volume":"45","author":"R Goldberg","year":"1993","unstructured":"Goldberg, R., Motzkin, B., Marion, R., Scambler, P.J. & Shprintzen, R.J. Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Hum. Genet. 45, 313\u2013319 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0301_286_CR3","doi-asserted-by":"publisher","first-page":"1212","DOI":"10.1001\/archpedi.1993.02160350086013","volume":"147","author":"SD McLean","year":"1993","unstructured":"McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. & Driscoll, D.A. Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am. J. Dis. Child. 147, 1212\u20131216 (1993).","journal-title":"Am. J. Dis. Child."},{"key":"BFng0301_286_CR4","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1136\/jmg.32.9.746","volume":"32","author":"J Goodship","year":"1995","unstructured":"Goodship, J., Cross, I., Scambler, P. & Burn, J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 32, 746\u2013748 (1995).","journal-title":"J. Med. Genet."},{"key":"BFng0301_286_CR5","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1089\/gte.1997.1.99","volume":"1","author":"DM McDonald-McGinn","year":"1997","unstructured":"McDonald-McGinn, D.M. et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing 1, 99\u2013108 (1997).","journal-title":"Genetic Testing"},{"key":"BFng0301_286_CR6","doi-asserted-by":"publisher","first-page":"9991","DOI":"10.1073\/pnas.95.17.9991","volume":"95","author":"JA Gogos","year":"1998","unstructured":"Gogos, J.A. et al. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Natl. Acad. Sci. USA 95, 9991\u20139996 (1998).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0301_286_CR7","doi-asserted-by":"publisher","first-page":"2229","DOI":"10.1093\/hmg\/8.12.2229","volume":"8","author":"WL Kimber","year":"1999","unstructured":"Kimber, W.L. et al. Deletion of 150 kb in the minimal DiGeorge\/velocardiofacial syndrome critical region in mouse. Hum. Mol. Genet. 8, 2229\u20132237 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR8","first-page":"379","volume":"401","author":"EA Lindsay","year":"1999","unstructured":"Lindsay, E.A. et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401, 379\u2013383 (1999).","journal-title":"Nature"},{"key":"BFng0301_286_CR9","doi-asserted-by":"publisher","first-page":"10090","DOI":"10.1073\/pnas.97.18.10090","volume":"97","author":"A Puech","year":"2000","unstructured":"Puech, A. et al. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial\/DiGeorge syndrome region. Proc. Natl. Acad. Sci. USA 97, 10090\u201310095 (2000).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0301_286_CR10","doi-asserted-by":"publisher","first-page":"1841","DOI":"10.1093\/hmg\/7.12.1841","volume":"7","author":"B Saint-Jore","year":"1998","unstructured":"Saint-Jore, B. et al. Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. Hum. Mol. Genet. 7, 1841\u20131849 (1998).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR11","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1093\/hmg\/7.12.1835","volume":"7","author":"M Wakamiya","year":"1998","unstructured":"Wakamiya, M., Lindsay, E.A., Rivera-Perez, J.A., Baldini, A. & Behringer, R.R. Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes. Hum. Mol. Genet. 7, 1835\u20131840 (1998).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR12","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1006\/geno.1997.4829","volume":"43","author":"C Chieffo","year":"1997","unstructured":"Chieffo, C. et al. Isolation and characterization of a gene from the DiGeorge chromosomal region (DGCR) homologous to the mouse Tbx1 gene. Genomics 43, 267\u2013277 (1997).","journal-title":"Genomics"},{"key":"BFng0301_286_CR13","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/ng0794-383","volume":"7","author":"RJ Bollag","year":"1994","unstructured":"Bollag, R.J. et al. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7, 383\u2013389 (1994).","journal-title":"Nature Genet."},{"key":"BFng0301_286_CR14","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F","volume":"206","author":"DL Chapman","year":"1996","unstructured":"Chapman, D.L. et al. Expression of the T-box family genes, Tbx1\u2013Tbx5, during early mouse development. Dev. Dyn. 206, 379\u2013390 (1996).","journal-title":"Dev. Dyn."},{"key":"BFng0301_286_CR15","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1242\/dev.127.9.1869","volume":"127","author":"JA Epstein","year":"2000","unstructured":"Epstein, J.A. et al. Migration of cardiac neural crest cells in Splotch embryos. Development 127, 1869\u20131878 (2000).","journal-title":"Development"},{"key":"BFng0301_286_CR16","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1002\/bies.950190905","volume":"19","author":"E Dahl","year":"1997","unstructured":"Dahl, E., Kosedi, H. & Balling, R. Pax genes and organogenesis. Bioessays 19, 755\u2013765 (1997).","journal-title":"Bioessays"},{"key":"BFng0301_286_CR17","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1038\/71634","volume":"24","author":"DW Stockton","year":"2000","unstructured":"Stockton, D.W., Das, P., Goldenberg, M., D'Souza, R.M. & Patel, P.I. Mutation of PAX9 is associated with oligodontia. Nature Genet. 24, 18\u201319 (2000).","journal-title":"Nature Genet."},{"key":"BFng0301_286_CR18","doi-asserted-by":"publisher","first-page":"2735","DOI":"10.1101\/gad.12.17.2735","volume":"12","author":"H Peters","year":"1998","unstructured":"Peters, H., Neubuser, A., Kratochwil, K. & Balling, R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 12, 2735\u20132747 (1998).","journal-title":"Genes Dev."},{"key":"BFng0301_286_CR19","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1038\/74231","volume":"24","author":"I Satokata","year":"2000","unstructured":"Satokata, I. et al. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nature Genet. 24, 391\u2013395 (2000).","journal-title":"Nature Genet."},{"key":"BFng0301_286_CR20","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/74224","volume":"24","author":"AOM Wilkie","year":"2000","unstructured":"Wilkie, A.O.M. et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet. 24, 387\u2013390 (2000).","journal-title":"Nature Genet."},{"key":"BFng0301_286_CR21","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1093\/hmg\/6.2.247","volume":"6","author":"LG Wilming","year":"1997","unstructured":"Wilming, L.G., Snoeren, C.A.S., van Rijswijk, A., Grosveld, F. & Meijers, C. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum. Mol. Genet. 6, 247\u2013258 (1997).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR22","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1093\/hmg\/6.2.237","volume":"6","author":"C Roberts","year":"1997","unstructured":"Roberts, C., Daw, S.C.M., Halford, S. & Scambler, P.J. Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum. Mol. Genet. 6, 237\u2013245 (1997).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0301_286_CR23","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1161\/01.RES.84.2.127","volume":"84","author":"MJ Farrell","year":"1999","unstructured":"Farrell, M.J. et al. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ. Res. 84, 127\u2013135 (1999).","journal-title":"Circ. Res."},{"key":"BFng0301_286_CR24","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1101\/SQB.1997.062.01.019","volume":"62","author":"M Wakamiya","year":"1997","unstructured":"Wakamiya, M., Rivera-Perez, J.A., Baldini, A. & Behringer, R.R. Goosecoid and Goosecoid-related genes in mouse embryogenesis. Cold Spring Harb. Symp. Quant. Biol. 62, 145\u2013149 (1997).","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"BFng0301_286_CR25","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1126\/science.283.5405.1158","volume":"283","author":"H Yamagishi","year":"1999","unstructured":"Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T. & Srivastava, D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283, 1158\u20131161 (1999).","journal-title":"Science"},{"key":"BFng0301_286_CR26","doi-asserted-by":"publisher","first-page":"8424","DOI":"10.1073\/pnas.90.18.8424","volume":"90","author":"A Nagy","year":"1993","unstructured":"Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W. & Roder, J. Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl. Acad. Sci. USA 90, 8424\u20138428 (1993).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0301_286_CR27","volume-title":"Manipulating the Mouse Embryo. A Laboratory Manual","author":"B Hogan","year":"1994","unstructured":"Hogan, B., Beddington, R., Costantini, F. & Lacy, E. (eds.) Manipulating the Mouse Embryo. A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1994)."},{"key":"BFng0301_286_CR28","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/(SICI)1097-0177(199710)210:2<146::AID-AJA7>3.0.CO;2-G","volume":"210","author":"M Mallo","year":"1997","unstructured":"Mallo, M. & Br\u00e4ndlin, I. Segmental identity can change independently in the hindbrain and rhombencephalic neural crest. Dev. Dyn. 210, 146\u2013156 (1997).","journal-title":"Dev. Dyn."},{"key":"BFng0301_286_CR29","volume-title":"Whole Mount In Situ Hybridization of Vertebrate Embryos","author":"DG Wilkinson","year":"1992","unstructured":"Wilkinson, D.G. Whole Mount In Situ Hybridization of Vertebrate Embryos (IRL Press, Oxford, 1992)."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0301_286.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0301_286","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0301_286.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:23:37Z","timestamp":1684427017000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0301_286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,3]]}},"alternative-id":["BFng0301_286"],"URL":"https:\/\/doi.org\/10.1038\/85845","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3]]}}}