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Journal Abstract Search

282 related items for PubMed ID: 11176989

  • 21. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
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  • 22. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.
    Br J Ophthalmol; 2005 Feb 02; 89(2):198-206. PubMed ID: 15665353
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  • 26. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG, Anderson JL, Fish GE.
    Ophthalmology; 1999 Feb 02; 106(2):258-68. PubMed ID: 9951474
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  • 29. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec 02; 105(12):2286-96. PubMed ID: 9855162
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  • 32. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
    Ophthalmology; 1999 Jun 02; 106(6):1101-8. PubMed ID: 10366077
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  • 33. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr 02; 48(4):1824-31. PubMed ID: 17389517
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  • 37. 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 02; 36(11):2186-92. PubMed ID: 7558711
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  • 39. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
    Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M.
    Eye (Lond); 2007 Sep 02; 21(9):1220-5. PubMed ID: 17041576
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