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Your search keyword '"Black, G.C.M."' showing total 5 results
Start Over Author "Black, G.C.M." Topic genetic aspects
5 results on '"Black, G.C.M."'

1. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. (Scientific Correspondence)

Author

Irvine, A.D., Coleman, C.M., Moore, J.E., Swensson, O., Morgan, S.J., McCarthy, J.H., Smith, F.J.D., Black, G.C.M., and McLean, W.H.I.

Subjects
Gene mutations -- Physiological aspects -- Genetic aspects, Corneal diseases -- Genetic aspects, Keratin -- Genetic aspects -- Physiological aspects, Health, Physiological aspects, Genetic aspects
Abstract

Background: The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. The mechanisms by which these [...]

Published
2002

2. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (Original Article)

Author

Chandler, K.E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A-E, Black, G.C.M., and Clayton-Smith, J.

Subjects
Genetic disorders -- Research -- Genetic aspects, Eye -- Abnormalities -- Research -- Genetic aspects, Child development deviations -- Genetic aspects -- Research, Face -- Abnormalities -- Genetic aspects -- Research, Medical genetics -- Research, Developmental disabilities -- Genetic aspects -- Research, Health, Research, Genetic aspects, Abnormalities
Abstract

Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed to by the lack [...]

Published
2003

4. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (Short Report)

Author

Elson, E., Perveen, R., Donnai, D., Wall, S., and Black, G.C.M.

Subjects
Gene mutations -- Research -- Genetic aspects, Familial diseases -- Genetic aspects -- Research, Genetic disorders -- Research -- Genetic aspects, Child development deviations -- Identification and classification -- Research -- Genetic aspects, Acrocallosal syndrome -- Research -- Genetic aspects, Syndromes -- Genetic aspects -- Research, Face -- Abnormalities -- Genetic aspects -- Research, Medical genetics -- Research, Skull -- Abnormalities -- Genetic aspects -- Research, Developmental disabilities -- Identification and classification -- Research -- Genetic aspects, Polydactyly -- Genetic aspects -- Research, Mental retardation -- Causes of -- Genetic aspects -- Research, Macrocephaly -- Genetic aspects -- Research, Corpus callosum -- Abnormalities -- Research, Health, Identification and classification, Genetic aspects, Research, Abnormalities, Causes of
Abstract

Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), [...]

Published
2002

5. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. (Scientific Correspondence)

Author

Jamieson, R.V., Munier, F., Balmer, A., Farrar, N., Perveen, R., and Black, G.C.M.

Subjects
Eye diseases -- Research -- Genetic aspects -- Physiological aspects, Cataract -- Research -- Physiological aspects -- Genetic aspects, Health, Physiological aspects, Research, Genetic aspects
Abstract

Aims: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. Methods: Five [...]

Published
2003

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