D
D I Wilson
Researcher at Newcastle University
Publications - 20
Citations - 2894
D I Wilson is an academic researcher from Newcastle University. The author has contributed to research in topics: DiGeorge syndrome & Chromosome 22. The author has an hindex of 13, co-authored 20 publications receiving 2818 citations.
Papers
More filters
Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
DiGeorge syndrome: part of CATCH 22.
TL;DR: It is proposed that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.
Journal ArticleDOI
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
Peter J. Scambler,Deirdre Kelly,Ea Lindsay,Robert Williamson,Rosalie Goldberg,Robert J. Shprintzen,D I Wilson,Judith A. Goodship,I.E Cross,John Burn +9 more
TL;DR: Preliminary data is presented that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.
Journal ArticleDOI
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
John Burn,Atsuyoshi Takao,D I Wilson,I Cross,Kazuo Momma,R Wadey,Peter J. Scambler,Judith A. Goodship +7 more
TL;DR: The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart and showed similarities to Shprintzen syndrome and DiGeorge syndrome.
Journal ArticleDOI
Deletions within chromosome 22q11 in familial congenital heart disease
TL;DR: It is proposed that deletions within band q11 of chromosome 22 are an important cause of familial heart defects in DiGeorge and Shprintzen syndromes.