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Journal Abstract Search

318 related items for PubMed ID: 9228242

  • 1. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
    Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G, Polland W.
    Ophthalmic Genet; 1997 Jun; 18(2):63-70. PubMed ID: 9228242
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  • 2. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
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  • 3. Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
    Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 1995 Oct; 36(11):2186-92. PubMed ID: 7558711
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  • 4. Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.
    Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E.
    Ger J Ophthalmol; 1992 Oct; 1(5):319-27. PubMed ID: 1477634
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  • 5. [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].
    Reig C, Antich J, Gean E, Dante Heredia C, Valverde D, Baiget M, Carballo M.
    Med Clin (Barc); 1996 Feb 17; 106(6):219-21. PubMed ID: 8667664
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  • 6. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Jul 17; 35(8):3134-44. PubMed ID: 8045708
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  • 7. Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
    Reig CM, Trujillo JM, Martinez-Gimeno MM, Garcia-Sandoval BM, Calvo TM, Ayuso C, Carballo M.
    Ophthalmic Genet; 2000 Jun 17; 21(2):79-87. PubMed ID: 10916182
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  • 8. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep 17; 42(10):2217-24. PubMed ID: 11527933
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  • 9. Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
    Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C.
    Br J Ophthalmol; 2004 Dec 17; 88(12):1533-7. PubMed ID: 15548806
    [Abstract] [Full Text] [Related]

  • 10. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
    Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL.
    Nature; 1990 Jan 25; 343(6256):364-6. PubMed ID: 2137202
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  • 19. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.
    Klin Oczna; 2004 Jan 25; 106(6):743-8. PubMed ID: 15787173
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