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 *

203 related articles for article (PubMed ID: 7825692)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U; Ponjavic V; Abrahamson M; Nilsson-Ehle P; Andrëasson S; Stenström I; Ehinger B
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. [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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
    Nakazawa M; Kikawa E; Kamio K; Chida Y; Shiono T; Tamai M
    Arch Ophthalmol; 1994 Dec; 112(12):1567-73. PubMed ID: 7993211
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
    Apfelstedt-Sylla E; Theischen M; Rüther K; Wedemann H; Gal A; Zrenner E
    Br J Ophthalmol; 1995 Jan; 79(1):28-34. PubMed ID: 7880786
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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; 1992 Nov; 14(3):805-7. PubMed ID: 1427912
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
    Bareil C; Delague V; Arnaud B; Demaille J; Hamel C; Claustres M
    Hum Mutat; 2000 Jun; 15(6):583-4. PubMed ID: 10862101
    [No Abstract]   [Full Text] [Related]  

  • 20. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
    Nakazawa M; Kikawa E; Chida Y; Tamai M
    Hum Mol Genet; 1994 Jul; 3(7):1195-6. PubMed ID: 7981698
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.