319 related articles for article (PubMed ID: 8485576)
1. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Wells J; Wroblewski J; Keen J; Inglehearn C; Jubb C; Eckstein A; Jay M; Arden G; Bhattacharya S; Fitzke F
Nat Genet; 1993 Mar; 3(3):213-8. PubMed ID: 8485576
[TBL] [Abstract][Full Text] [Related]
2. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
Gorin MB; Jackson KE; Ferrell RE; Sheffield VC; Jacobson SG; Gass JD; Mitchell E; Stone EM
Ophthalmology; 1995 Feb; 102(2):246-55. PubMed ID: 7862413
[TBL] [Abstract][Full Text] [Related]
3. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Fishman GA; Stone E; Gilbert LD; Vandenburgh K; Sheffield VC; Heckenlively JR
Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
Weleber RG; Carr RE; Murphey WH; Sheffield VC; Stone EM
Arch Ophthalmol; 1993 Nov; 111(11):1531-42. PubMed ID: 8240110
[TBL] [Abstract][Full Text] [Related]
5. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
Leroy BP; Kailasanathan A; De Laey JJ; Black GC; Manson FD
Br J Ophthalmol; 2007 Jan; 91(1):89-93. PubMed ID: 16916875
[TBL] [Abstract][Full Text] [Related]
6. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
Reig C; Serra A; Gean E; Vidal M; Arumí J; De la Calzada MD; Antich J; Carballo M
Ophthalmic Genet; 1995 Jun; 16(2):39-44. PubMed ID: 7493155
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
Hoyng CB; Heutink P; Testers L; Pinckers A; Deutman AF; Oostra BA
Am J Ophthalmol; 1996 Jun; 121(6):623-9. PubMed ID: 8644804
[TBL] [Abstract][Full Text] [Related]
8. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
Nakazawa M; Wada Y; Tamai M
Retina; 1995; 15(6):518-23. PubMed ID: 8747448
[TBL] [Abstract][Full Text] [Related]
9. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Kajiwara K; Sandberg MA; Berson EL; Dryja TP
Nat Genet; 1993 Mar; 3(3):208-12. PubMed ID: 8485575
[TBL] [Abstract][Full Text] [Related]
10. Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
Fujiki K; Hotta Y; Hayakawa M; Fujimaki T; Takeda M; Isashiki Y; Ohba N; Kanai A
Jpn J Ophthalmol; 1998; 42(3):186-92. PubMed ID: 9690896
[TBL] [Abstract][Full Text] [Related]
11. A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Bareil C; Hamel C; Arnaud B; Demaille J; Claustres M
Ophthalmic Genet; 1997 Sep; 18(3):129-38. PubMed ID: 9361310
[TBL] [Abstract][Full Text] [Related]
12. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).
Lam BL; Vandenburgh K; Sheffield VC; Stone EM
Am J Ophthalmol; 1995 Jan; 119(1):65-71. PubMed ID: 7825692
[TBL] [Abstract][Full Text] [Related]
13. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ; Hernan I; Muntanyola M; Trujillo MJ; García-Sandoval B; Ayuso C; Baiget M; Carballo M
Mol Vis; 2007 Jun; 13():1031-7. PubMed ID: 17653047
[TBL] [Abstract][Full Text] [Related]
14. [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].
Millá E; Héon E; Piguet B; Ducrey N; Butler N; Stone E; Schorderet DF; Munier F
Klin Monbl Augenheilkd; 1998 May; 212(5):305-8. PubMed ID: 9677563
[TBL] [Abstract][Full Text] [Related]
15. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ; Inglehearn CF
Hum Mutat; 1996; 8(4):297-303. PubMed ID: 8956033
[TBL] [Abstract][Full Text] [Related]
16. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
Wroblewski JJ; Wells JA; Eckstein A; Fitzke F; Jubb C; Keen TJ; Inglehearn C; Bhattacharya S; Arden GB; Jay M
Ophthalmology; 1994 Jan; 101(1):12-22. PubMed ID: 8302543
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
Nakazawa M; Kikawa E; Chida Y; Wada Y; Shiono T; Tamai M
Arch Ophthalmol; 1996 Jan; 114(1):72-8. PubMed ID: 8540854
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of the ROM1 gene in retinitis pigmentosa.
Bascom RA; Liu L; Heckenlively JR; Stone EM; McInnes RR
Hum Mol Genet; 1995 Oct; 4(10):1895-902. PubMed ID: 8595413
[TBL] [Abstract][Full Text] [Related]
19. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
van Lith-Verhoeven JJ; van den Helm B; Deutman AF; Bergen AA; Cremers FP; Hoyng CB; de Jong PT
Arch Ophthalmol; 2003 Oct; 121(10):1452-7. PubMed ID: 14557182
[TBL] [Abstract][Full Text] [Related]
20. Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Trujillo MJ; Martinez-Gimeno M; Giménez A; Lorda I; Bueno J; García-Sandoval B; Ramos C; Carballo M; Ayuso C
Hum Mutat; 2001; 17(1):80. PubMed ID: 11139263
[No Abstract] [Full Text] [Related]
[Next] [New Search]