178 related articles for article (PubMed ID: 12042139)
21. 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]
22. A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
Sakuma H; Inana G; Murakami A; Yajima T; Weleber RG; Murphey WH; Gass JD; Hotta Y; Hayakawa M; Fujiki K
Genomics; 1995 May; 27(2):384-6. PubMed ID: 7558016
[No Abstract] [Full Text] [Related]
23. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.
Boon CJ; den Hollander AI; Hoyng CB; Cremers FP; Klevering BJ; Keunen JE
Prog Retin Eye Res; 2008 Mar; 27(2):213-35. PubMed ID: 18328765
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene.
Passerini I; Sodi A; Giambene B; Menchini U; Torricelli F
Eur J Ophthalmol; 2007; 17(6):1000-3. PubMed ID: 18050133
[TBL] [Abstract][Full Text] [Related]
26. Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
Ekström U; Ponjavic V; Andréasson S; Ehinger B; Nilsson-Ehle P; Abrahamson M
Mol Pathol; 1998 Oct; 51(5):287-91. PubMed ID: 10193525
[TBL] [Abstract][Full Text] [Related]
27. A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.
Kalyanasundaram TS; Black GC; O'Sullivan J; Bishop PN
Eye (Lond); 2009 Jan; 23(1):237-9. PubMed ID: 18356930
[No Abstract] [Full Text] [Related]
28. Central areolar choroidal dystrophy.
Boon CJ; Klevering BJ; Cremers FP; Zonneveld-Vrieling MN; Theelen T; Den Hollander AI; Hoyng CB
Ophthalmology; 2009 Apr; 116(4):771-82, 782.e1. PubMed ID: 19243827
[TBL] [Abstract][Full Text] [Related]
29. A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B; Weigell-Weber M; Schipper I; Kryenbühl C; Büchi ER; Spiegel R; Hergersberg M
Retina; 2006 Oct; 26(8):947-53. PubMed ID: 17031298
[TBL] [Abstract][Full Text] [Related]
30. Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.
Khoubian FJ; Shakin EP; Tantri A; Kim DY; Edwards AO; Donoso LA
Retina; 2005 Dec; 25(8):999-1004. PubMed ID: 16340530
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
Schatz P; Abrahamson M; Eksandh L; Ponjavic V; Andréasson S
Acta Ophthalmol Scand; 2003 Oct; 81(5):500-7. PubMed ID: 14510799
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.
McNally N; Kenna PF; Rancourt D; Ahmed T; Stitt A; Colledge WH; Lloyd DG; Palfi A; O'Neill B; Humphries MM; Humphries P; Farrar GJ
Hum Mol Genet; 2002 May; 11(9):1005-16. PubMed ID: 11978760
[TBL] [Abstract][Full Text] [Related]
37. Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
Budu ; Hayasaka S; Matsumoto M; Yamada T; Zhang XY; Hayasaka Y
Jpn J Ophthalmol; 2001; 45(4):355-8. PubMed ID: 11485765
[TBL] [Abstract][Full Text] [Related]
38. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Farrar GJ; Kenna P; Jordan SA; Kumar-Singh R; Humphries MM; Sharp EM; Sheils D; Humphries P
Genomics; 1993 Feb; 15(2):466. PubMed ID: 8449524
[No Abstract] [Full Text] [Related]
39. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
Grüning G; Millan JM; Meins M; Beneyto M; Caballero M; Apfelstedt-Sylla E; Bosch R; Zrenner E; Prieto F; Gal A
Hum Mutat; 1994; 3(3):321-3. PubMed ID: 8019570
[No Abstract] [Full Text] [Related]
40. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
Kikawa E; Nakazawa M; Chida Y; Shiono T; Tamai M
Genomics; 1994 Mar; 20(1):137-9. PubMed ID: 8020945
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]