These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 8554077)

  • 1. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
    Souied E; Soubrane G; Benlian P; Coscas GJ; Gerber S; Munnich A; Kaplan J
    Am J Ophthalmol; 1996 Jan; 121(1):19-25. PubMed ID: 8554077
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
    Dryja TP; Hahn LB; Kajiwara K; Berson EL
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1972-82. PubMed ID: 9331261
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.
    Shastry BS; Trese MT
    Biochem Biophys Res Commun; 1997 Feb; 231(1):103-5. PubMed ID: 9070228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].
    Benítez Del Castillo JM ; Trujillo MJ; Del Río T ; García B; Ayuso C; García Sánchez J
    Arch Soc Esp Oftalmol; 2000 Apr; 75(4):281-6. PubMed ID: 11151159
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].
    Zhang F; Zhang Q; Shen H; Li S; Xiao X
    Yan Ke Xue Bao; 1998 Dec; 14(4):210-4. PubMed ID: 12579739
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. [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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
    Matias-Florentino M; Ayala-Ramirez R; Graue-Wiechers F; Zenteno JC
    Curr Eye Res; 2009 Dec; 34(12):1050-6. PubMed ID: 19958124
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance.
    Runte M; Dekomien G; Epplen JT
    Anim Genet; 2000 Jun; 31(3):223-7. PubMed ID: 10895316
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Analysis of the rhodopsin and peripherin/RDS gene in two families with pattern dystrophy of the retinal pigment epithelium.
    Daniele S; Restagno G; Daniele C; Nardacchione A; Danese P; Carbonara A
    Eur J Ophthalmol; 1996; 6(2):197-200. PubMed ID: 8823597
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
    Grøndahl J; Riise R; Heiberg A; Leren T; Christoffersen T; Bragadottir R
    Acta Ophthalmol Scand; 2007 May; 85(3):287-97. PubMed ID: 17488458
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.