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Results: 1-7 |
Results: 7
Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Authors: Biswas, S Munier, FL Yardley, J Hart-Holden, N Perveen, R Cousin, P Sutphin, JE Noble, B Batterbury, M Kielty, C Hackett, A Bonshek, R Ridgway, A McLeod, D Sheffield, VC Stone, EM Schorderet, DF Black, GCM
Citation: S. Biswas et al., Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy, HUM MOL GEN, 10(21), 2001, pp. 2415-2423
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations
Authors: Perveen, R Lloyd, IC Clayton-Smith, J Churchill, A van Heyningen, V Hanson, I Taylor, D McKeown, C Super, M Kerr, B Winter, R Black, GCM
Citation: R. Perveen et al., Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations, INV OPHTH V, 41(9), 2000, pp. 2456-2460
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?
Authors: Ridgway, AEA Akhtar, S Munier, FL Schorderet, DF Stewart, H Perveen, R Bonshek, RE Odenthal, MTP Dixon, M Barraquer, R Escoto, R Black, GCM
Citation: Aea. Ridgway et al., Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?, INV OPHTH V, 41(11), 2000, pp. 3286-3292
Coats' disease of the retina (unilateral retinal telangiectasis) caused bysomatic mutation in the NDP gene: a role for norrin in retinal angiogenesis
Authors: Black, GCM Perveen, R Bonshek, R Cahill, M Clayton-Smith, J Lloyd, IC McLeod, D
Citation: Gcm. Black et al., Coats' disease of the retina (unilateral retinal telangiectasis) caused bysomatic mutation in the NDP gene: a role for norrin in retinal angiogenesis, HUM MOL GEN, 8(11), 1999, pp. 2031-2035
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3
Authors: Perveen, R Hart-Holden, N Dixon, MJ Wiszniewski, W Fryer, AE Brunner, HG Pinkners, AJLH van Beersum, SEC Black, GCM
Citation: R. Perveen et al., Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3, GENOMICS, 57(2), 1999, pp. 219-226
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14
Authors: Black, GCM Perveen, R Wiszniewski, W Dodd, CL Donnai, D McLeod, D
Citation: Gcm. Black et al., A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14, OPHTHALMOL, 106(11), 1999, pp. 2074-2081
A mutation in the RIEG1 gene associated with Peters' anomaly
Authors: Doward, W Perveen, R Lloyd, IC Ridgway, AEA Wilson, L Black, GCM
Citation: W. Doward et al., A mutation in the RIEG1 gene associated with Peters' anomaly, J MED GENET, 36(2), 1999, pp. 152-155
Risultati: 1-7 |