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American Journal of Human Genetics|September 29, 2001
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humansV Berry, P Francis, M A Reddy, et al.The British Journal of Ophthalmology|January 25, 2003
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphismsT Aung, K Okada, D Poinoosawmy, et al.Human Molecular Genetics|December 15, 2000
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophyS E Wilkie, R J Newbold, E Deery, et al.Human Molecular Genetics|March 16, 2004
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataractM A Reddy, O A Bateman, C Chakarova, et al.Genomics|August 10, 1995
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7pT J Keen, C F Inglehearn, E D Green, et al.Genomics|January 1, 1990
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneityC F Inglehearn, M Jay, D H Lester, et al.The British Journal of Ophthalmology|June 19, 2003
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British familiesM F El-Ashry, M M Abd El-Aziz, D F P Larkin, et al.Nature Genetics|October 4, 2000
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28C Alexander, M Votruba, U E Pesch, et al.Human Genetics|September 10, 1999
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani originV Berry, D Mackay, S Khaliq, et al.The British Journal of Ophthalmology|November 1, 1994
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosaJ J Wroblewski, J A Wells, A Eckstein, et al.Pageof 18