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317 related items for PubMed ID: 8163341

  • 1. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
    Jacobson SG, Kemp CM, Cideciyan AV, Macke JP, Sung CH, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Apr; 35(5):2521-34. PubMed ID: 8163341
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa.
    Milam AH, Li ZY, Cideciyan AV, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1996 Apr; 37(5):753-65. PubMed ID: 8603860
    [Abstract] [Full Text] [Related]

  • 6. Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation.
    Birch DG, Hood DC, Nusinowitz S, Pepperberg DR.
    Invest Ophthalmol Vis Sci; 1995 Jul; 36(8):1603-14. PubMed ID: 7601641
    [Abstract] [Full Text] [Related]

  • 7. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 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; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 9. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
    Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
    [Abstract] [Full Text] [Related]

  • 10. 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; 35(8):3134-44. PubMed ID: 8045708
    [Abstract] [Full Text] [Related]

  • 11. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG, Anderson JL, Fish GE.
    Ophthalmology; 1999 Feb; 106(2):258-68. PubMed ID: 9951474
    [Abstract] [Full Text] [Related]

  • 12. Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene.
    Goto Y, Peachey NS, Ripps H, Naash MI.
    Invest Ophthalmol Vis Sci; 1995 Jan; 36(1):62-71. PubMed ID: 7822160
    [Abstract] [Full Text] [Related]

  • 13. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
    Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 1995 Aug; 36(9):1934-42. PubMed ID: 7635666
    [Abstract] [Full Text] [Related]

  • 14. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.
    Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G.
    Invest Ophthalmol Vis Sci; 1992 Dec; 33(13):3481-92. PubMed ID: 1464493
    [Abstract] [Full Text] [Related]

  • 15. 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 Dec; 1(5):319-27. PubMed ID: 1477634
    [Abstract] [Full Text] [Related]

  • 16. Unique characteristics of two types of retinitis pigmentosa patients with different rod sensitivities.
    Takahashi H, Miyake Y, Horiguchi M, Tomida N, Takakuwa H.
    Jpn J Ophthalmol; 2005 Dec; 49(2):114-20. PubMed ID: 15838727
    [Abstract] [Full Text] [Related]

  • 17. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
    Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M.
    Ophthalmic Genet; 2005 Sep; 26(3):119-24. PubMed ID: 16272056
    [Abstract] [Full Text] [Related]

  • 18. Rod phototransduction in retinitis pigmentosa. Distinguishing alternative mechanisms of degeneration.
    Shady S, Hood DC, Birch DG.
    Invest Ophthalmol Vis Sci; 1995 May; 36(6):1027-37. PubMed ID: 7730012
    [Abstract] [Full Text] [Related]

  • 19. Rod visual fields in cone-rod degeneration. Comparisons to retinitis pigmentosa.
    Birch DG, Anderson JL.
    Invest Ophthalmol Vis Sci; 1990 Nov; 31(11):2288-99. PubMed ID: 2242994
    [Abstract] [Full Text] [Related]

  • 20. 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; 88(12):1533-7. PubMed ID: 15548806
    [Abstract] [Full Text] [Related]

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