M
Marcelle Jay
Researcher at Moorfields Eye Hospital
Publications - 86
Citations - 4268
Marcelle Jay is an academic researcher from Moorfields Eye Hospital. The author has contributed to research in topics: Retinitis pigmentosa & Locus (genetics). The author has an hindex of 31, co-authored 86 publications receiving 4176 citations. Previous affiliations of Marcelle Jay include University College London.
Papers
More filters
Journal ArticleDOI
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more
TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
Journal ArticleDOI
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
John A. Wells,John J. Wroblewski,J Keen,Chris F. Inglehearn,Christopher Jubb,Anja Eckstein,Marcelle Jay,Geoffrey B. Arden,Shomi S. Bhattacharya,Fred W. Fitzke,Alan C. Bird +10 more
TL;DR: Findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino–acids in peripherin–RDS may be different in cones and rods.
Journal ArticleDOI
Lifetime Risks of Common Cancers Among Retinoblastoma Survivors
TL;DR: Survivors of hereditary retinoblastoma who are not exposed to high-dose radiotherapy have a high lifetime risk of developing a late-onset epithelial cancer.
ARTICLES Lifetime Risks of Common Cancers Among Retinoblastoma Survivors
TL;DR: The authors found that hereditary retinoblastoma survivors who are not exposed to high-dose radiotherapy have a high lifetime risk of developing a late-onset epithelial cancer.
Journal ArticleDOI
Localization of two genes for Usher syndrome type I to chromosome 11.
Richard J.H. Smith,Elizabeth C. Lee,William J. Kimberling,Stephen P. Daiger,M. Z. Pelias,Bronya J.B. Keats,Marcelle Jay,Alan C. Bird,William Reardon,Mary Guest,Radha Ayyagari,J. Fielding Hejtmancik +11 more
TL;DR: Results confirm the presence of two distinct USH1 loci on chromosome 11, and linkage analysis demonstrates locus heterogeneity between these sets of families, with the French-Acadian families showing linkage to D11S419 (Z = 4.20, theta = 0) and the British families showing links to D 11S527 (Z= 6.03, theTA = 0).