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Journal Abstract Search

236 related items for PubMed ID: 8675410

  • 1. 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
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  • 2. 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
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  • 4. 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 Jan; 16(5):405-10. PubMed ID: 8912967
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  • 5. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
    Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Mar 01; 52(3):1557-66. PubMed ID: 21071739
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  • 6. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
    Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 1994 Jul 01; 35(8):3154-62. PubMed ID: 8045710
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  • 8. Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.
    Ray K, Acland GM, Aguirre GD.
    Invest Ophthalmol Vis Sci; 1996 Apr 01; 37(5):783-94. PubMed ID: 8603863
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  • 9. 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 01; 113(4):451-5. PubMed ID: 7710395
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  • 10. 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 01; 104(2):299-306. PubMed ID: 9052636
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  • 12. Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.
    Jacobson SG, Cideciyan AV, Maguire AM, Bennett J, Sheffield VC, Stone EM.
    Exp Eye Res; 1996 Nov 01; 63(5):603-8. PubMed ID: 8994365
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  • 14. The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice.
    Ding XQ, Nour M, Ritter LM, Goldberg AF, Fliesler SJ, Naash MI.
    Hum Mol Genet; 2004 Sep 15; 13(18):2075-87. PubMed ID: 15254014
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  • 16. 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 15; 19(1):27-37. PubMed ID: 9587927
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  • 19. 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 15; 102(2):246-55. PubMed ID: 7862413
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