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Results: 1-9 |
Results: 9
Molecular genetics and prospects for therapy of the inherited retinal dystrophies
Authors: Bessant, DAR Ali, RR Bhattacharya, SS
Citation: Dar. Bessant et al., Molecular genetics and prospects for therapy of the inherited retinal dystrophies, CUR OP GEN, 11(3), 2001, pp. 307-316
Spectrum of mutations in USH2A in British patients with Usher syndrome type II
Authors: Leroy, BP Aragon-Martin, JA Weston, MD Bessant, DAR Willis, C Webster, AR Bird, AC Kimberling, WJ Payne, AM Bhattacharya, SS
Citation: Bp. Leroy et al., Spectrum of mutations in USH2A in British patients with Usher syndrome type II, EXP EYE RES, 72(5), 2001, pp. 503-509
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies
Authors: Bessant, DAR Payne, AM Plant, C Bird, AC Swaroop, A Bhattacharya, SS
Citation: Dar. Bessant et al., NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies, EUR J HUM G, 8(10), 2000, pp. 783-787
Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)
Authors: Bessant, DAR Payne, AM Snow, BE Antinolo, G Mehdi, SQ Bird, AC Siderovski, DP Bhattacharya, SS
Citation: Dar. Bessant et al., Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r), J MED GENET, 37(5), 2000, pp. 384-387
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
Authors: Bessant, DAR Payne, AM Mitton, KP Wang, QL Swain, PK Plant, C Bird, AC Zack, DJ Swaroop, A Bhattacharya, SS
Citation: Dar. Bessant et al., A mutation in NRL is associated with autosomal dominant retinitis pigmentosa, NAT GENET, 21(4), 1999, pp. 355-356
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies
Authors: Payne, AM Downes, SM Bessant, DAR Plant, C Moore, T Bird, AC Bhattacharya, SS
Citation: Am. Payne et al., Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies, J MED GENET, 36(9), 1999, pp. 691-693
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32
Authors: Bessant, DAR Anwar, K Khaliq, S Hameed, A Ismail, M Payne, AM Mehdi, SQ Bhattacharya, SS
Citation: Dar. Bessant et al., Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32, BR J OPHTH, 83(8), 1999, pp. 919-922
Clinical features of codon 172 RDS macular dystrophy - Similar phenotype in 12 families
Authors: Downes, SM Fitzke, FW Holder, GE Payne, AM Bessant, DAR Bhattacharya, SS Bird, AC
Citation: Sm. Downes et al., Clinical features of codon 172 RDS macular dystrophy - Similar phenotype in 12 families, ARCH OPHTH, 117(10), 1999, pp. 1373-1383
Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
Authors: Khaliq, S Hameed, A Ismail, M Mehdi, SQ Bessant, DAR Payne, AM Bhattacharya, SS
Citation: S. Khaliq et al., Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin, AM J HU GEN, 65(2), 1999, pp. 571-574
Risultati: 1-9 |