{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,4]],"date-time":"2024-08-04T16:36:47Z","timestamp":1722789407508},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1-2","license":[{"start":{"date-parts":[[2007,4,11]],"date-time":"2007-04-11T00:00:00Z","timestamp":1176249600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Cell Biochem"],"published-print":{"date-parts":[[2007,8,8]]},"DOI":"10.1007\/s11010-007-9450-5","type":"journal-article","created":{"date-parts":[[2007,4,18]],"date-time":"2007-04-18T11:11:38Z","timestamp":1176894698000},"page":"9-17","source":"Crossref","is-referenced-by-count":18,"title":["Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2"],"prefix":"10.1007","volume":"303","author":[{"given":"Paula","family":"Sandrin-Garcia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagma V. M.","family":"Abramides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00facia R.","family":"Martelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester S.","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ant\u00f4nio","family":"Richieri-Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geraldo A. S.","family":"Passos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,4,11]]},"reference":[{"key":"9450_CR1","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","volume":"9","author":"PJ Scambler","year":"2000","unstructured":"Scambler PJ (2000) The 22q11 deletion syndromes. Hum Mol Genet 9:2421\u20132426","journal-title":"Hum Mol Genet"},{"key":"9450_CR2","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1089\/gte.1997.1.99","volume":"1","author":"DM McDonald-McGinn","year":"1997","unstructured":"McDonald-McGinn DM, Larossa D, Goldmuntz E et al (1997) The 22q11.2 deletion: screening, diagnostic workup, and outcome of results: report on 181 patients. Genet Test 1:99\u2013108","journal-title":"Genet Test"},{"key":"9450_CR3","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H","volume":"6","author":"RJ Shprintzen","year":"2000","unstructured":"Shprintzen RJ (2000) Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 6:142\u2013147","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"9450_CR4","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1034\/j.1399-0004.2003.00049.x","volume":"63","author":"MC Digilio","year":"2003","unstructured":"Digilio MC, Angioni A, De Santis M et al (2003) Spectrum of clinical variability in familial deletion 22q11.2 from full manifestation to extremely mild clinical anomalies. Clin Genet 63:308\u2013313","journal-title":"Clin Genet"},{"key":"9450_CR5","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1034\/j.1399-0004.2002.610511.x","volume":"61","author":"P Sandrin-Garcia","year":"2002","unstructured":"Sandrin-Garcia P, Macedo C, Martelli LR et al (2002) Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380\u2013383","journal-title":"Clin Genet"},{"key":"9450_CR6","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1097\/01.GIM.0000144011.97407.B6","volume":"6","author":"A Adeyinca","year":"2004","unstructured":"Adeyinca A, Stockero KJ, Flynn HC et al (2004) Familial 22q11.2 deletions in DiGeorge\/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb. Genet Med 6:517\u2013520","journal-title":"Genet Med"},{"key":"9450_CR7","first-page":"1391","volume":"56","author":"B Morrow","year":"1995","unstructured":"Morrow B, Goldberg R, Carlson C et al (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391\u20131403","journal-title":"Am J Hum Genet"},{"key":"9450_CR8","first-page":"851","volume":"60","author":"C Carlson","year":"1997","unstructured":"Carlson C, Papolos D, Pandita RK et al (1997) Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet 60:851\u2013859","journal-title":"Am J Hum Genet"},{"key":"9450_CR9","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1086\/515508","volume":"61","author":"C Carlson","year":"1997","unstructured":"Carlson C, Sirotikin H, Pandita R et al (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61:620\u2013629","journal-title":"Am J Hum Genet"},{"key":"9450_CR10","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","volume":"60","author":"L Edelman","year":"1999","unstructured":"Edelman L, Pandita RK, Morrow BE (1999) Low-copy repeats mediate the common 3 Mb deletion in patients with velocardiofacial syndrome. Am J Hum Genet 60:1076\u20131086","journal-title":"Am J Hum Genet"},{"key":"9450_CR11","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","volume":"9","author":"TH Shaikh","year":"2000","unstructured":"Shaikh TH, Kurahashi H, Saitta SC et al (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489\u2013501","journal-title":"Hum Mol Genet"},{"key":"9450_CR12","first-page":"56","volume":"15","author":"RJ Shprintzen","year":"1978","unstructured":"Shprintzen RJ, Goldberg R, Lewin ML et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical face, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56\u201362","journal-title":"Cleft Palate J"},{"key":"9450_CR13","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0065-3101(23)00073-7","volume":"48","author":"BS Emanuel","year":"2001","unstructured":"Emanuel BS, McDonald-McGinn D, Saitta SC et al (2001) The 22q11.2 deletion syndrome. Adv Pediatr 48:39\u201373","journal-title":"Adv Pediatr"},{"key":"9450_CR14","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","volume":"67","author":"RJ Shprintzen","year":"1981","unstructured":"Shprintzen RJ, Goldberg R, Young D et al (1981) The velo-cardio-facial syndrome: a clinical and genetics analysis. Pediatrics 67:167\u2013172","journal-title":"Pediatrics"},{"key":"9450_CR15","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1136\/jmg.28.9.596","volume":"28","author":"HA Lipson","year":"1991","unstructured":"Lipson HA, Yuille D, Angel M et al (1991) Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J Med Genet 28:596\u2013604","journal-title":"J Med Genet"},{"key":"9450_CR16","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1590\/S1415-47572007000100006","volume":"30","author":"P Sandrin-Garcia","year":"2007","unstructured":"Sandrin-Garcia P, Richieri-Costa A, Tajara EH et al (2007) Fluorescence in\u00a0situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies. Genet Mol Biol 30:21\u201324","journal-title":"Genet Mol Biol"},{"key":"9450_CR17","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1136\/jnnp.67.6.803","volume":"67","author":"S Sugama","year":"1999","unstructured":"Sugama S, Namihira T, Matsuoka R et al (1999) Psychiatric in patients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry 67:803\u2013806","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9450_CR18","first-page":"11","volume":"10","author":"DM McDonald-McGinn","year":"1999","unstructured":"McDonald-McGinn DM, Kirschner R, Goldmuntz E et al (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11\u201324","journal-title":"Genet Couns"},{"key":"9450_CR19","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","volume":"31","author":"DM McDonald-McGinn","year":"2001","unstructured":"McDonald-McGinn DM, Tonnessen MK, Laufer-Cahana A et al (2001) Phenotype of 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 31:23\u201329","journal-title":"Genet Med"},{"key":"9450_CR20","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798\u2013804","journal-title":"J Med Genet"},{"key":"9450_CR21","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/BF00214179","volume":"96","author":"S Demczuk","year":"1995","unstructured":"Demczuk S, Levy A, Aubry M et al (1995) Excess of deletions of maternal origin in the DiGeorge\/velo-cardio-facial syndromes: a study of 22 new patients and review of the literature. Hum Genet 96:9\u201313","journal-title":"Hum Genet"},{"key":"9450_CR22","first-page":"163S","volume":"67","author":"SC Saitta","year":"2000","unstructured":"Saitta SC, Driscoll DA, Rappaport EF et al (2000) The 22q11.2 deletion: parental origin and meiotic mechanism. Am J Hum Genet 67:163S","journal-title":"Am J Hum Genet"},{"key":"9450_CR23","first-page":"105","volume":"13","author":"A Vogels","year":"2002","unstructured":"Vogels A, Fryns JP (2002) The velocardiofacial syndrome: a review. Genet Couns 13:105\u2013113","journal-title":"Genet Couns"},{"key":"9450_CR24","first-page":"1194","volume":"60","author":"S Gottlieb","year":"1997","unstructured":"Gottlieb S, Emanuel BS, Driscoll DA et al (1997) The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am J Hum Genet 60:1194\u20131201","journal-title":"Am J Hum Genet"},{"key":"9450_CR25","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/6.2.259","volume":"6","author":"A Pizutti","year":"1997","unstructured":"Pizutti A, Novelli G, Ratti A et al (1997) UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 6:259\u2013265","journal-title":"Hum Mol Genet"},{"key":"9450_CR26","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1126\/science.283.5405.1158","volume":"283","author":"H Yamagishi","year":"1999","unstructured":"Yamagishi H, Garg V, Matsuoka R et al (1999) A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158\u20131161","journal-title":"Science"},{"key":"9450_CR27","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/hmg\/2.10.1577","volume":"2","author":"S Halford","year":"1993","unstructured":"Halford S, Wilson D, Daw S et al (1993) Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet 2:1577\u20131582","journal-title":"Hum Mol Genet"},{"key":"9450_CR28","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0092-8674(01)00247-1","volume":"104","author":"S Merscher","year":"2001","unstructured":"Merscher S, Funke B, Epstein JA et al (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial\/DiGeorge syndrome. Cell 104:619\u2013629","journal-title":"Cell"},{"key":"9450_CR29","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/hmg\/ddh176","volume":"13","author":"J Liao","year":"2004","unstructured":"Liao J, Kochilas L, Nowotschin S et al (2004) Full spectrum of malformations in velo-cardio-facial syndrome\/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13:1577\u20131585","journal-title":"Hum Mol Genet"},{"key":"9450_CR30","doi-asserted-by":"crossref","first-page":"7729","DOI":"10.1073\/pnas.0600206103","volume":"103","author":"R Paylor","year":"2006","unstructured":"Paylor R, Glaser B, Mupo A et al (2006) Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Nat Acad Sci 103:7729\u20137734","journal-title":"Proc Nat Acad Sci"},{"key":"9450_CR31","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/0140-6736(92)92553-R","volume":"340","author":"I Dunham","year":"1992","unstructured":"Dunham I, Collins J, Wadey R et al (1992) Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 340:1361\u20131362","journal-title":"Lancet"},{"key":"9450_CR32","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.biopsych.2005.03.020","volume":"58","author":"K Baker","year":"2005","unstructured":"Baker K, Baldeweg T, Sivagnanasundaram S et al (2005) COMT val108\/158met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol Psychiat 58:23\u201331","journal-title":"Biol Psychiat"}],"container-title":["Molecular and Cellular Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11010-007-9450-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11010-007-9450-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11010-007-9450-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T13:11:38Z","timestamp":1707829898000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11010-007-9450-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,11]]},"references-count":32,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2007,8,8]]}},"alternative-id":["9450"],"URL":"https:\/\/doi.org\/10.1007\/s11010-007-9450-5","relation":{},"ISSN":["0300-8177","1573-4919"],"issn-type":[{"value":"0300-8177","type":"print"},{"value":"1573-4919","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,11]]}}}