C
C McKeown
Publications - 9
Citations - 1525
C McKeown is an academic researcher. The author has contributed to research in topics: DiGeorge syndrome & HOXD13. The author has an hindex of 7, co-authored 9 publications receiving 1456 citations.
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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
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
FR Goodman,Stefan Mundlos,Y. Muragaki,Dian Donnai,Maria-Luisa Giovannucci-Uzielli,Elisabetta Lapi,Frank Majewski,Julie McGaughran,C McKeown,Willie Reardon,Joseph Upton,Robin M. Winter,Bjorn R. Olsen,Peter J. Scambler +13 more
TL;DR: The remarkable correlation between phenotype and expansion size suggests that expansion of the tract leads to a specific gain of function in the mutant HOXD13 protein, and has interesting implications for the role of polyalanine tracts in the control of transcription.
Journal ArticleDOI
Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene
DM Hagan,Alison Ross,Tom Strachan,Sally Ann Lynch,Victor L. Ruiz-Perez,YM Wang,Peter J. Scambler,E Custard,Willie Reardon,S. Hassan,Maximilian Muenke,P Nixon,C Papapetrou,Robin M. Winter,Yvonne J. K. Edwards,K. Morrison,Margaret Barrow,M.P. Cordier-Alex,Patrícia Santana Correia,Patricia Galvin-Parton,S. Gaskill,K.J. Gaskin,Sixto García-Miñaur,R. Gereige,Richard Hayward,Tessa Homfray,C McKeown,Victoria Murday,H. Plauchu,Nora Shannon,Lewis Spitz,Susan Lindsay +31 more
TL;DR: The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA) as discussed by the authors.
Journal ArticleDOI
Floating-Harbor syndrome.
TL;DR: The name of this syndrome is derived from the hospitals where the first two patients were described, and for its memorable quality is likely to become established.
Journal ArticleDOI
Noonan's and DiGeorge syndromes with monosomy 22q11.
TL;DR: A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported, and molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome.