R
Robin M. Winter
Researcher at Northwick Park Hospital
Publications - 167
Citations - 11699
Robin M. Winter is an academic researcher from Northwick Park Hospital. The author has contributed to research in topics: Craniosynostosis & Locus (genetics). The author has an hindex of 51, co-authored 167 publications receiving 11358 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
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Andrew O.M. Wilkie,Andrew O.M. Wilkie,Sarah F. Slaney,Sarah F. Slaney,Michael Oldridge,Michael D. Poole,Geraldine J. Ashworth,Anthony D. Hockley,Richard Hayward,David J. David,L J Pulleyn,Paul Rutland,S. Malcolm,Robin M. Winter,William Reardon +14 more
TL;DR: Specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome are identified.
Journal ArticleDOI
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
TL;DR: Direct sequencing has revealed specific mutations in the B exon of FGFR2 in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
Journal ArticleDOI
Subtle chromosomal rearrangements in children with unexplained mental retardation.
Samantha J. L. Knight,Regina Regan,Alison Nicod,Sharon W. Horsley,Lyndal Kearney,Tessa Homfray,Robin M. Winter,Patrick Bolton,Jonathan Flint +8 more
TL;DR: Owing to the high prevalence of familial cases, screening for subtle chromosomal rearrangements is warranted in children with unexplained moderate to severe mental retardation.
Journal ArticleDOI
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Paul Rutland,L J Pulleyn,Willie Reardon,M Baraitser,Richard Hayward,Barry M. Jones,S. Malcolm,Robin M. Winter,Michael Oldridge,Sarah F. Slaney,Sarah F. Slaney +10 more
TL;DR: Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome, and point mutations in FGFR2 are reported in seven sporadic Pfeiffsers.