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Results: 1-15 |
Results: 15
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
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Authors: Toomes, C Marchbank, NJ Mackey, DA Craig, JE Newbury-Ecob, RA Bennett, CP Vize, CJ Desai, SP Black, GCM Patel, N Teimory, M Markham, AF Inglehearn, CF Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Authors: Gong, YQ Slee, RB Fukai, N Rawadi, G Roman-Roman, S Reginato, AM Wang, HW Cundy, T Glorieux, FH Lev, D Zacharin, M Oexle, K Marcelino, J Suwairi, W Heeger, S Sabatakos, G Apte, S Adkins, WN Allgrove, J Arslan-Kirchner, M Batch, JA Beighton, P Black, GCM Boles, RG Boon, LM Borrone, C Brunner, HG Carle, GF Dallapiccola, B De Paepe, A Floege, B Halfhide, ML Hall, B Hennekam, RC Hirose, T Jans, A Juppner, H Kim, CA Keppler-Noreuil, K Kohlschuetter, A LaCombe, D Lambert, M Lemyre, E Letteboer, T Peltonen, L Ramesar, RS Romanengo, M Somer, H Steichen-Gersdorf, E Steinmann, B Sullivan, B Superti-Furga, A Swoboda, W van den Boogaard, MJ Van Hul, V Vikkula, M Votruba, M Zabel, B Garcia, T Baron, R Olsen, BR Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Genetic testing - swings and roundabouts: a view from the United Kingdom
Authors: Black, GCM Donnai, D
Citation: Gcm. Black et D. Donnai, Genetic testing - swings and roundabouts: a view from the United Kingdom, BR J OPHTH, 85(12), 2001, pp. 1402-1404
Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder
Authors: Downes, SM Black, GCM Hyman, N Simmonds, M Morris, J Barton, C
Citation: Sm. Downes et al., Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder, ARCH OPHTH, 119(9), 2001, pp. 1376-1378
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
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
Authors: Clayton-Smith, J Watson, P Ramsden, S Black, GCM
Citation: J. Clayton-smith et al., Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males, LANCET, 356(9232), 2000, pp. 830-832
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family
Authors: Stewart, HS Parveen, R Ridgway, AE Bonshek, R Black, GCM
Citation: Hs. Stewart et al., Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family, BR J OPHTH, 84(4), 2000, pp. 390-394
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 mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late onset form of lattice corneal dystrophy
Authors: Stewart, H Black, GCM Donnai, D Bonshek, RE McCarthy, J Morgan, S Dixon, MJ Ridgway, AAE
Citation: H. Stewart et al., A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late onset form of lattice corneal dystrophy, OPHTHALMOL, 106(5), 1999, pp. 964-970
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
Ophthalmology in the post-genomic era
Authors: Black, GCM Boulton, ME Bishop, PN McLeod, D
Citation: Gcm. Black et al., Ophthalmology in the post-genomic era, BR J OPHTH, 83(11), 1999, pp. 1215-1218
Risultati: 1-15 |