{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T12:33:10Z","timestamp":1784637190209,"version":"3.55.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,2,1]]},"DOI":"10.1093\/hmg\/ddl455","type":"journal-article","created":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T22:20:08Z","timestamp":1165962008000},"page":"276-285","source":"Crossref","is-referenced-by-count":65,"title":["The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning"],"prefix":"10.1093","volume":"16","author":[{"given":"H.","family":"Fagman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Westerlund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Andersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.E.","family":"Morrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nilsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"key\n\t\t\t\t20171012093034_DDL455C1","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1210\/endo.143.6.8864","article-title":"Perspective: genetic defects in the etiology of congenital hypothyroidism","volume":"143","author":"Kopp","year":"2002","journal-title":"Endocrinology"},{"key":"key\n\t\t\t\t20171012093034_DDL455C2","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1210\/er.2003-0028","article-title":"Thyroid development and its disorders: genetics and molecular mechanisms","volume":"25","author":"De Felice","year":"2004","journal-title":"Endocr. Rev."},{"key":"key\n\t\t\t\t20171012093034_DDL455C3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"Genetics of congenital hypothyroidism","volume":"42","author":"Park","year":"2005","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C4","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.clinbiochem.2006.03.015","article-title":"Congenital hypothyroidism: from paracelsus to molecular diagnosis","volume":"39","author":"Djemli","year":"2006","journal-title":"Clin. Biochem."},{"key":"key\n\t\t\t\t20171012093034_DDL455C5","first-page":"1095","article-title":"Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestations","volume":"2","author":"Collaborative","year":"1981","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20171012093034_DDL455C6","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1089\/thy.1999.9.1075","article-title":"Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: report of sixteen patients","volume":"9","author":"Mikosch","year":"1999","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t20171012093034_DDL455C7","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1210\/jc.2002-021574","article-title":"Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function","volume":"88","author":"Maiorana","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20171012093034_DDL455C8","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1101\/gad.10.1.60","article-title":"The T\/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary","volume":"10","author":"Kimura","year":"1996","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20171012093034_DDL455C9","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/1289","article-title":"A mouse model for hereditary thyroid dysgenesis and cleft palate","volume":"19","author":"De Felice","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C10","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/ng0598-87","article-title":"Follicular cells of the thyroid gland require Pax8 gene function","volume":"19","author":"Mansouri","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C11","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0598-83","article-title":"PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis","volume":"19","author":"Macchia","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C12","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/1294","article-title":"Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia","volume":"19","author":"Clifton-Bligh","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C13","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1172\/JCI0214341","article-title":"Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2\u20131 haploinsufficiency","volume":"109","author":"Krude","year":"2002","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20171012093034_DDL455C14","doi-asserted-by":"crossref","first-page":"5038","DOI":"10.1210\/en.2005-0882","article-title":"A mouse model demonstrates a multigenic origin of congenital hypothyroidism","volume":"146","author":"Amendola","year":"2005","journal-title":"Endocrinology"},{"key":"key\n\t\t\t\t20171012093034_DDL455C15","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1210\/jc.2001-011995","article-title":"Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology","volume":"87","author":"Perry","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20171012093034_DDL455C16","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.1210\/jcem.84.7.5831","article-title":"A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations","volume":"84","author":"Devos","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20171012093034_DDL455C17","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1089\/thy.2005.15.165","article-title":"High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism","volume":"15","author":"Kreisner","year":"2005","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t20171012093034_DDL455C18","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1016\/S0002-9440(10)63745-5","article-title":"Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in mouse","volume":"164","author":"Fagman","year":"2004","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C19","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s004310051307","article-title":"Prevalence of thyroid hemiagenesis: ultrasound screening in normal children","volume":"159","author":"Shabana","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"key\n\t\t\t\t20171012093034_DDL455C20","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s00431-004-1459-0","article-title":"Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation","volume":"163","author":"Hehr","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"key\n\t\t\t\t20171012093034_DDL455C21","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/dvdy.20653","article-title":"The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation","volume":"235","author":"Fagman","year":"2006","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20171012093034_DDL455C22","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1006\/dbio.2001.0283","article-title":"Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development","volume":"235","author":"Garg","year":"2001","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C23","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":"key\n\t\t\t\t20171012093034_DDL455C24","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.gde.2005.03.001","article-title":"Dissecting contiguous gene defects: TBX1","volume":"15","author":"Baldini","year":"2005","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20171012093034_DDL455C25","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":"key\n\t\t\t\t20171012093034_DDL455C26","first-page":"173","article-title":"DiGeorge's or the III\u2013IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis","volume":"2","author":"Robinson","year":"1975","journal-title":"Perspect. Pediatr. Pathol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C27","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","article-title":"The spectrum of the DiGeorge syndrome","volume":"94","author":"Conley","year":"1979","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20171012093034_DDL455C28","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","article-title":"Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study","volume":"34","author":"Ryan","year":"1997","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20171012093034_DDL455C29","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1515\/JPEM.1998.11.2.273","article-title":"Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature","volume":"11","author":"Scuccimarri","year":"1998","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20171012093034_DDL455C30","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1067\/mpd.2002.126006","article-title":"Thyroid disease in children with 22q11.2 deletion syndrome","volume":"141","author":"Preece","year":"2002","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20171012093034_DDL455C31","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 deletion syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171012093034_DDL455C32","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":"key\n\t\t\t\t20171012093034_DDL455C33","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":"key\n\t\t\t\t20171012093034_DDL455C34","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ydbio.2004.08.048","article-title":"An integrated regulatory network controlling survival and migration in thyroid organogenesis","volume":"276","author":"Parlato","year":"2004","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C35","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":"key\n\t\t\t\t20171012093034_DDL455C36","doi-asserted-by":"crossref","first-page":"5307","DOI":"10.1242\/dev.02086","article-title":"Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development","volume":"132","author":"Zhang","year":"2005","journal-title":"Development"},{"key":"key\n\t\t\t\t20171012093034_DDL455C37","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1242\/dev.02264","article-title":"Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations","volume":"133","author":"Arnold","year":"2006","journal-title":"Development"},{"key":"key\n\t\t\t\t20171012093034_DDL455C38","doi-asserted-by":"crossref","first-page":"4613","DOI":"10.1242\/dev.129.19.4613","article-title":"Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse","volume":"129","author":"Abu-Issa","year":"2002","journal-title":"Development"},{"key":"key\n\t\t\t\t20171012093034_DDL455C39","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":"key\n\t\t\t\t20171012093034_DDL455C40","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1101\/gad.12.17.2735","article-title":"Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities","volume":"12","author":"Peters","year":"1998","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20171012093034_DDL455C41","first-page":"2009","article-title":"The development of pharyngeal endocrine organs in mouse and chick embryos","volume":"4","author":"Hilfer","year":"1984","journal-title":"Scan. Electron Microsc."},{"key":"key\n\t\t\t\t20171012093034_DDL455C42","first-page":"291","article-title":"The topogenesis of the thyroid in chick embryos","volume":"29","author":"Knospe","year":"1991","journal-title":"Eur. J. Morphol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C43","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1126\/science.6606851","article-title":"Dependence of thymus development on derivatives of the neural crest","volume":"223","author":"Bockman","year":"1984","journal-title":"Science"},{"key":"key\n\t\t\t\t20171012093034_DDL455C44","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/aja.1001800403","article-title":"Effect of neural crest ablation on development of the heart and arch arteries in the chick","volume":"180","author":"Bockman","year":"1987","journal-title":"Am. J. Anat."},{"key":"key\n\t\t\t\t20171012093034_DDL455C45","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1046\/j.1469-7580.2002.00071.x","article-title":"Development of pharyngeal arch arteries in early mouse embryo","volume":"201","author":"Hiruma","year":"2002","journal-title":"J. Anat."},{"key":"key\n\t\t\t\t20171012093034_DDL455C46","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ydbio.2005.04.029","article-title":"Sonic hedgehog is required for cardiac outflow tract and neural crest cell development","volume":"283","author":"Washington Smoak","year":"2005","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20171012093034_DDL455C47","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1016\/S0003-4975(00)02150-0","article-title":"Intracardiac ectopic thyroid","volume":"70","author":"Casanova","year":"2000","journal-title":"Ann. Thorac. Surg."},{"key":"key\n\t\t\t\t20171012093034_DDL455C48","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.a.20609","article-title":"New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome","volume":"127","author":"Bini","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171012093034_DDL455C49","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1002\/ajmg.a.31270","article-title":"Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive","volume":"140","author":"Verloes","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171012093034_DDL455C50","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1002\/j.1460-2075.1986.tb04525.x","article-title":"Cadherin cell adhesion molecules with distinct binding specificities share a common structure","volume":"5","author":"Shirayoshi","year":"1986","journal-title":"Embo J."},{"key":"key\n\t\t\t\t20171012093034_DDL455C51","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/jemt.10405","article-title":"Three-dimensional computer reconstruction of large tissue volumes based on composing series of high-resolution confocal images by GlueMRC and LinkMRC software","volume":"62","author":"Karen","year":"2003","journal-title":"Microsc. Res. Tech."},{"key":"key\n\t\t\t\t20171012093034_DDL455C52","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1242\/dev.02550","article-title":"Arteries define the position of the thyroid gland during its developmental relocalisation","volume":"133","author":"Alt","year":"2006","journal-title":"Development"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/16\/3\/276\/17244128\/ddl455.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T18:23:30Z","timestamp":1628187810000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/16\/3\/276\/611113\/The-22q11-deletion-syndrome-candidate-gene-Tbx1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,12]]},"references-count":52,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2006,12,12]]},"published-print":{"date-parts":[[2007,2,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddl455","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1089068.542696","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1089068.542893","asserted-by":"object"}]},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2007,2,1]]},"published":{"date-parts":[[2006,12,12]]}}}