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 *

123 related articles for article (PubMed ID: 8004111)

  • 1. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
    Keen TJ; Inglehearn CF; Kim R; Bird AC; Bhattacharya S
    Hum Mol Genet; 1994 Feb; 3(2):367-8. PubMed ID: 8004111
    [No Abstract]   [Full Text] [Related]  

  • 2. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
    Kim RY; Dollfus H; Keen TJ; Fitzke FW; Arden GB; Bhattacharya SS; Bird AC
    Arch Ophthalmol; 1995 Apr; 113(4):451-5. PubMed ID: 7710395
    [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. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.
    Jacobson SG; Cideciyan AV; Kemp CM; Sheffield VC; Stone EM
    Invest Ophthalmol Vis Sci; 1996 Jul; 37(8):1662-74. PubMed ID: 8675410
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
    Fishman GA; Stone EM; Alexander KR; Gilbert LD; Derlacki DJ; Butler NS
    Ophthalmology; 1997 Feb; 104(2):299-306. PubMed ID: 9052636
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.
    Ma J; Norton JC; Allen AC; Burns JB; Hasel KW; Burns JL; Sutcliffe JG; Travis GH
    Genomics; 1995 Jul; 28(2):212-9. PubMed ID: 8530028
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A sequence polymorphism in the human peripherin/RDS gene.
    Farrar GJ; Kenna P; Jordan SA; Kumar-Singh R; Humphries P
    Nucleic Acids Res; 1991 Dec; 19(24):6982. PubMed ID: 1762948
    [No Abstract]   [Full Text] [Related]  

  • 17. [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].
    Trujillo Tiebas MJ; Giménez Pardo A; García Sandoval B; Ayuso García C
    Med Clin (Barc); 2002 May; 118(18):716. PubMed ID: 12042139
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.