243 related articles for article (PubMed ID: 8747448)
1. 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]
2. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
Nakazawa M; Naoi N; Wada Y; Nakazaki S; Maruiwa F; Sawada A; Tamai M
Retina; 1996; 16(5):405-10. PubMed ID: 8912967
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Anand S; Sheridan E; Cassidy F; Inglehearn C; Williams G; Springell K; Allgar V; Kelly TL; McKibbin M
Retina; 2009 May; 29(5):682-8. PubMed ID: 19262438
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
Michaelides M; Holder GE; Bradshaw K; Hunt DM; Moore AT
Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
Downes SM; Fitzke FW; Holder GE; Payne AM; Bessant DA; Bhattacharya SS; Bird AC
Arch Ophthalmol; 1999 Oct; 117(10):1373-83. PubMed ID: 10532447
[TBL] [Abstract][Full Text] [Related]
14. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
Piguet B; Héon E; Munier FL; Grounauer PA; Niemeyer G; Butler N; Schorderet DF; Sheffield VC; Stone EM
Ophthalmic Genet; 1996 Dec; 17(4):175-86. PubMed ID: 9010868
[TBL] [Abstract][Full Text] [Related]
15. Autosomal dominant macular dystrophy in a large Canadian family.
Donoso LA; Hageman G; Frost A; Sheffield V; Beck J; Hébert M; MacDonald IM
Can J Ophthalmol; 2003 Feb; 38(1):33-40. PubMed ID: 12608515
[TBL] [Abstract][Full Text] [Related]
16. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
van Lith-Verhoeven JJ; Cremers FP; van den Helm B; Hoyng CB; Deutman AF
Mol Vis; 2003 Apr; 9():138-43. PubMed ID: 12724643
[TBL] [Abstract][Full Text] [Related]
17. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Grover S; Fishman GA; Stone EM
Ophthalmology; 2002 Jun; 109(6):1110-7. PubMed ID: 12045052
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
Keilhauer CN; Meigen T; Weber BH
Arch Ophthalmol; 2006 Jul; 124(7):1020-7. PubMed ID: 16832026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
