J. D. Shearman
John Radcliffe Hospital
16 Papers
500 Citations
J. D. Shearman is an academic researcher from John Radcliffe Hospital. The author has contributed to research in topics: Hemochromatosis & Hereditary hemochromatosis. The author has an hindex of 11, co-authored 16 publications.
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Papers
•Journal Article
A simple genetic test identifies 90% of UK patients with haemochromatosis
K. J. H. Robson,Mark Worwood,J. D. Shearman,Daniel F. Wallace,James S. Dooley,Alison T. Merryweather-Clarke,J.J. Pointon,Wmc Rosenberg,Derrick John Bowen,Alan Kenneth Burnett,H.A. Jackson,S. Lawless,Ruma Raha-Chowdhury,J Partridge,Roger Williams,Adrian Bomford,Ann P. Walker +16 more
TL;DR: These are the first phenotypic observations for patients without either C282Y or H63D mutation of HFE, which promises to be a highly effective tool in the diagnosis of GH.
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A simple genetic test identifies 90% of UK patients with haemochromatosis
Mark Worwood,J. D. Shearman,Daniel F. Wallace,James S. Dooley,Alison T. Merryweather-Clarke,J.J. Pointon,William Rosenberg,Derrick John Bowen,Alan Kenneth Burnett,H.A. Jackson,S. Lawless,Ruma Raha-Chowdhury,J Partridge,Roger Williams,Adrian Bomford,Ann P. Walker,K. J. H. Robson +16 more
- 01 Jan 1997
TL;DR: In this article, the prevalence of the HLA-H associated C282Y and H63D mutations was determined by polymerase chain reaction amplification and restriction enzyme digestion in a cohort of 115 well characterised patients with GH and 101 controls from the United Kingdom.
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New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
Ruma Raha-Chowdhury,Derrick John Bowen,Caroline Stone,Jennifer J. Pointon,Joseph D. Terwilliger,J. D. Shearman,Kathryn J. H. Robson,Adrian Bomford,Mark Worwood +8 more
TL;DR: It is confirmed that haemochromatosis appears to originate from a founder mutation which has multiplied in the population through successive generations and is likely to be located telomeric of D6S105 and close to CS5.
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The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.
Alison T. Merryweather-Clarke,Mark Worwood,Lisa Parkinson,Chris Mattock,J.J. Pointon,J. D. Shearman,Kathryn J. H. Robson +6 more
TL;DR: The results suggest that a large proportion of the many undetected C282Y homozygotes on Jersey and in similar populations could be in the preclinical stages of haemochromatosis, and warrant investigation.
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
Alison T. Merryweather-Clarke,Jennifer J. Pointon,J. D. Shearman,Kathryn J. H. Robson,Anne Marie Jouanolle,Annick Mosser,Véronique David,Jean Le Gall,David Halsall,Terence S. Elsey,Alison L Kelly,Timothy M. Cox,Michael Clare,Adrian Bomford,Jean Luc Vandwalle,Jacques Rochette,N. Borot,Hélène Coppin,M.-P. Roth,Eleanor Ryan,John Crowe,A. Totaro,Paolo Gasparini,Antonella Roetto,Clara Camaschella,Chris Darke,Daniel F. Wallace,Kasra Saeb-Parsy,James Dooley,Mark Worwood,Ann P. Walker +30 more
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