{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:30Z","timestamp":1762001610759},"reference-count":12,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.arcped.2004.10.015","type":"journal-article","created":{"date-parts":[[2004,12,19]],"date-time":"2004-12-19T08:30:12Z","timestamp":1103445012000},"page":"254-257","source":"Crossref","is-referenced-by-count":9,"title":["Syndrome de Di George, \u00e9tude r\u00e9trospective de 52 cas"],"prefix":"10.1016","volume":"12","author":[{"given":"F.","family":"Minier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Carles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Pelluard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.M.","family":"Alberti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Stern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Saura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2004.10.015_bib1","unstructured":"Poaty H.\u00a0: Syndrome de Di George, corr\u00e9lation \u00e9cho-anatomopathologique \u00e9tude r\u00e9trospective de 7 cas.Facult\u00e9 de Bordeaux. M\u00e9moire pour le dipl\u00f4me interuniversitaire de f\u0153topathologie, pr\u00e9sent\u00e9 et soutenu le 19 octobre 2001."},{"key":"10.1016\/j.arcped.2004.10.015_bib2","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmg.31.9.741","article-title":"CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia\u00a0:cAtch 22. A common result of 22q11 deficency?","volume":"31","author":"Lipson","year":"1994","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.arcped.2004.10.015_bib3","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S0929-693X(99)80448-5","article-title":"Malformations conotroncales et autres aspects cliniques secondaires \u00e0 la microd\u00e9l\u00e9tion 22q11.A propos d\u2019une s\u00e9rie de 11 patients","volume":"6","author":"Breviere","year":"1999","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.arcped.2004.10.015_bib4","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<182::AID-AJMG12>3.0.CO;2-Q","article-title":"Microsatellite DNA markers detects 95% of chromosome 22q11 deletions","volume":"68","author":"Bonnet","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.arcped.2004.10.015_bib5","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.1320450307","article-title":"Velo-cardio-facial syndrome: review of 120 patients","volume":"45","author":"Goldberg","year":"1993","journal-title":"Am. J. Med. Genet."},{"issue":"Suppl 2","key":"10.1016\/j.arcped.2004.10.015_bib6","doi-asserted-by":"crossref","first-page":"100s","DOI":"10.1016\/S0929-693X(01)00908-3","article-title":"Ph\u00e9notypes extra-cardiaques associ\u00e9s \u00e0 la micro-d\u00e9l\u00e9tion 22q11","volume":"9","author":"Lacombe","year":"2002","journal-title":"Arch. P\u00e9diatr."},{"key":"10.1016\/j.arcped.2004.10.015_bib7","first-page":"11","article-title":"The Philadelphia story\u00a0: the 22q11.2 deletion\u00a0: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet. Couns."},{"key":"10.1016\/j.arcped.2004.10.015_bib8","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1136\/jmg.33.4.349","article-title":"Renal and urological tract malformations caused by a 22q11 deletion","volume":"33","author":"Devriendt","year":"1996","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.arcped.2004.10.015_bib9","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/0929-693X(96)82157-9","article-title":"La microd\u00e9letion du chromosome 22q11 chez l\u2019enfant: \u00e0 propos d\u2019une s\u00e9rie de 49 cas","volume":"3","author":"Levy-Mozziconacci","year":"1996","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.arcped.2004.10.015_bib10","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1136\/jmg.34.5.423","article-title":"Chromosome 22q11 deletion presenting as the Potter sequence","volume":"34","author":"Devriendt","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.arcped.2004.10.015_bib11","first-page":"71","article-title":"Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome","volume":"10","author":"Rommel","year":"1999","journal-title":"Genet. Couns."},{"key":"10.1016\/j.arcped.2004.10.015_bib12","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.humpath.2004.01.020","article-title":"Determination of DNA ploidy by Fluorescence in situ Hybridization (FISH) in hydatidiform moles: evaluation of FISH on isolated nuclei","volume":"35","author":"Yver","year":"2004","journal-title":"Hum Pathol"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X04005585?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X04005585?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T15:59:02Z","timestamp":1548863942000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X04005585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S0929693X04005585"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2004.10.015","relation":{},"ISSN":["0929-693X"],"issn-type":[{"type":"print","value":"0929-693X"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}