{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:51:26Z","timestamp":1760982686865},"reference-count":46,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"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":["Journal of Plastic, Reconstructive &amp; Aesthetic Surgery"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1016\/j.bjps.2008.02.007","type":"journal-article","created":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T16:31:11Z","timestamp":1213374671000},"page":"1016-1023","source":"Crossref","is-referenced-by-count":16,"title":["Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome"],"prefix":"10.1016","volume":"61","author":[{"given":"J.C.C.","family":"Widdershoven","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.A.","family":"Beemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.H.","family":"Dejonckere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.B.","family":"Mink van der Molen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bjps.2008.02.007_bib1","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1136\/jmg.35.9.789-a","article-title":"The annual incidence of DiGeorge\/velocardiofacial syndrome","volume":"35","author":"Devriendt","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib2","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":"10.1016\/j.bjps.2008.02.007_bib3","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jpeds.2005.03.007","article-title":"Defining the clinical spectrum of deletion 22q11.2","volume":"147","author":"Robin","year":"2005","journal-title":"J Pediatr"},{"key":"10.1016\/j.bjps.2008.02.007_bib4","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.bjps.2008.02.007_bib5","first-page":"1391","article-title":"Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome","volume":"56","author":"Morrow","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib6","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet Couns"},{"key":"10.1016\/j.bjps.2008.02.007_bib7","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1034\/j.1399-0004.2003.00134.x","article-title":"No justification of routine screening for 22q11 deletions in patients with overt cleft palate","volume":"64","author":"Ruiter","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib8","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1002\/ajmg.a.31623","article-title":"Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study","volume":"143","author":"Jansen","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.bjps.2008.02.007_bib9","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1097\/01.chi.0000228131.56956.c1","article-title":"The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms","volume":"45","author":"Vorstman","year":"2006","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"10.1016\/j.bjps.2008.02.007_bib10","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1017\/S0954579405050364","article-title":"A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children","volume":"17","author":"Simon","year":"2005","journal-title":"Dev Psychopathol"},{"key":"10.1016\/j.bjps.2008.02.007_bib11","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/ajmg.a.31199","article-title":"Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)","volume":"140","author":"McDonald-McGinn","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.bjps.2008.02.007_bib12","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/ajmg.a.31155","article-title":"Tracheobronchial anomalies in chromosome 22q11.2 microdeletion","volume":"140","author":"Bertolani","year":"2006","journal-title":"Am J Med Gen"},{"key":"10.1016\/j.bjps.2008.02.007_bib15","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B","article-title":"Early speech and language development in children with velocardiofacial syndrome","volume":"88","author":"Scherer","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib16","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0021-9924(00)00018-6","article-title":"Communication disorders in the 22q11.2 microdeletion syndrome","volume":"33","author":"Solot","year":"2000","journal-title":"J Commun Disord"},{"key":"10.1016\/j.bjps.2008.02.007_bib17","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1080\/13682820500361497","article-title":"Language skills in 5\u20138-year-old children with 22q11 deletion syndrome","volume":"41","author":"Persson","year":"2006","journal-title":"Int J Lang Commun Disord"},{"key":"10.1016\/j.bjps.2008.02.007_bib18","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1159\/000052676","article-title":"Speech patterns in children with Velo-Cardio-Facial syndrome","volume":"53","author":"Van Lierde","year":"2001","journal-title":"Folia Phoniatrica et Logopaedica"},{"key":"10.1016\/j.bjps.2008.02.007_bib19","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","article-title":"The velo-cardio-facial syndrome: a clinical and genetic analysis","volume":"67","author":"Shprintzen","year":"1981","journal-title":"Pediatrics"},{"key":"10.1016\/j.bjps.2008.02.007_bib20","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1001\/archotol.1993.01880170089019","article-title":"The otolaryngologist and the patient with velocardiofacial syndrome","volume":"119","author":"Finkelstein","year":"1993","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"10.1016\/j.bjps.2008.02.007_bib21","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<8::AID-AJMG2>3.0.CO;2-O","article-title":"Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency","volume":"77","author":"Zori","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib22","series-title":"Cleft lip and palate, diagnosis and management","first-page":"667","article-title":"Surgical management of velopharyngeal dysfunction","author":"Kirschner","year":"2006"},{"key":"10.1016\/j.bjps.2008.02.007_bib23","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1097\/01.prs.0000206377.14083.ce","article-title":"Surgical correction of velopharyngeal insufficiency in children with velocardiofacial syndrome","volume":"117","author":"Losken","year":"2006","journal-title":"Plast Reconstr Surg"},{"key":"10.1016\/j.bjps.2008.02.007_bib24","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/01.moo.0000186203.53214.ac","article-title":"Velo-cardio-facial syndrome: the pediatric otolaryngologist's perspective","volume":"13","author":"Butts","year":"2005","journal-title":"Curr Opin Otolaryngol Head Neck Surg"},{"key":"10.1016\/j.bjps.2008.02.007_bib25","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1597\/01-110","article-title":"Surgical management of velo-pharyngeal incompetence in velocardiofacial syndrome","volume":"41","author":"Mehendale","year":"2004","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.bjps.2008.02.007_bib26","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0165-5876(00)00350-5","article-title":"Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development","volume":"54","author":"Havkin","year":"2000","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.bjps.2008.02.007_bib27","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1597\/1545-1569(1995)032<0179:MOTHV>2.3.CO;2","article-title":"Management of the hypodynamic velopharynx","volume":"32","author":"Witt","year":"1995","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.bjps.2008.02.007_bib28","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1001\/archfaci.5.6.503","article-title":"Thickness and histological and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome","volume":"5","author":"Zim","year":"2003","journal-title":"Arch Facial Plast Surg"},{"key":"10.1016\/j.bjps.2008.02.007_bib29","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.2106\/00004623-200408000-00020","article-title":"Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome","volume":"86-A","author":"Ricchetti","year":"2004","journal-title":"J\u00a0Bone Joint Surg Am"},{"key":"10.1016\/j.bjps.2008.02.007_bib30","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ijporl.2006.02.007","article-title":"Upper airway asymmetry in velo-cardio-facial syndrome","volume":"70","author":"Chegar","year":"2006","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.bjps.2008.02.007_bib31","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1093\/brain\/awl066","article-title":"Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study","volume":"129","author":"Campbell","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.bjps.2008.02.007_bib32","doi-asserted-by":"crossref","DOI":"10.1093\/cercor\/bhl097","article-title":"Mapping cortical thickness in children with 22q11.2 deletions","author":"Bearden","year":"2006","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.bjps.2008.02.007_bib33","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ajmg.1320540204","article-title":"Brain anomalies in velo-cardio-facial syndrome","volume":"54","author":"Mitnick","year":"1994","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.bjps.2008.02.007_bib34","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1097\/00004703-199810000-00004","article-title":"Developmental presentation of 22q11.2 deletion (DiGeorge\/velocardiofacial syndrome)","volume":"19","author":"Wang","year":"1998","journal-title":"J\u00a0Dev Behav Pediatr"},{"key":"10.1016\/j.bjps.2008.02.007_bib35","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1597\/03-063.1","article-title":"Surgical significance of abnormal internal carotid arteries in velocardiofacial syndrome in 43 consecutive hynes pharyngoplasties","volume":"41","author":"Mehendale","year":"2004","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.bjps.2008.02.007_bib36","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1001\/archfaci.4.2.73","article-title":"Pharyngeal flap and the internal carotid in velocardiofacial syndrome","volume":"4","author":"Tatum","year":"2002","journal-title":"Arch Facial Plast Surg"},{"key":"10.1016\/j.bjps.2008.02.007_bib37","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.34.6.453","article-title":"Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS","volume":"34","author":"Swillen","year":"1997","journal-title":"J Med Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib38","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0022-3476(99)70415-4","article-title":"Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern","volume":"134","author":"Moss","year":"1999","journal-title":"J Pediatr"},{"key":"10.1016\/j.bjps.2008.02.007_bib39","first-page":"522","article-title":"Measuring behavioral phenotypes: provocations from the \u2018new genetics\u2019","volume":"99","author":"Dykens","year":"1995","journal-title":"Am J Ment Retard"},{"key":"10.1016\/j.bjps.2008.02.007_bib40","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/35065105","article-title":"Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice","volume":"410","author":"Lindsay","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.bjps.2008.02.007_bib41","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0092-8674(01)00247-1","article-title":"TBX1 responsible for cardiovascular defects in velo-cardio-facial syndrome","volume":"104","author":"Merscher","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.bjps.2008.02.007_bib42","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.bjps.2008.02.007_bib43","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.bjps.2008.02.007_bib44","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","article-title":"Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions","volume":"80","author":"Zweier","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib45","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1093\/hmg\/ddl443","article-title":"Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome","volume":"16","author":"Raux","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.bjps.2008.02.007_bib46","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0925-4773(01)00616-5","article-title":"RanBP1, a velocardiofacial\/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal epithelial induction","volume":"111","author":"Maynard","year":"2002","journal-title":"Mech Dev"},{"key":"10.1016\/j.bjps.2008.02.007_bib47","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1597\/05-070.1","article-title":"Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome","volume":"42","author":"Driscoll","year":"2006","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.bjps.2008.02.007_bib48","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1597\/04-193.1","article-title":"Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis","volume":"43","author":"Ruotolo","year":"2006","journal-title":"Cleft Palate Craniofac J"}],"container-title":["Journal of Plastic, Reconstructive &amp; Aesthetic Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S174868150800315X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S174868150800315X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:19:17Z","timestamp":1684441157000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S174868150800315X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":46,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S174868150800315X"],"URL":"https:\/\/doi.org\/10.1016\/j.bjps.2008.02.007","relation":{},"ISSN":["1748-6815"],"issn-type":[{"value":"1748-6815","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}