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Journal Abstract Search


281 related items for PubMed ID: 2012147

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  • 4. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
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  • 5. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC.
    Arch Ophthalmol; 1991 Oct; 109(10):1387-93. PubMed ID: 1929926
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  • 8. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
    Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP.
    Am J Ophthalmol; 1991 May 15; 111(5):614-23. PubMed ID: 2021172
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  • 10. 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 15; 18(2):63-70. PubMed ID: 9228242
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  • 12. Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.
    Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gerding H, Gal A, Zrenner E.
    Br J Ophthalmol; 1993 Aug 15; 77(8):495-501. PubMed ID: 8025047
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  • 14. Genetic isolate and preserved para-arteriole retinal pigment epithelium.
    Piantanida A, Nucci P, Brancato R.
    Ophthalmic Genet; 1994 Jun 15; 15(2):95-8. PubMed ID: 7850274
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  • 17. Concentric retinitis pigmentosa: clinicopathologic correlations.
    Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG.
    Exp Eye Res; 2001 Oct 15; 73(4):493-508. PubMed ID: 11825021
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  • 18. Dominant retinitis pigmentosa. A clinicopathologic correlation.
    Meyer KT, Heckenlively JR, Spitznas M, Foos RY.
    Ophthalmology; 1982 Dec 15; 89(12):1414-24. PubMed ID: 6984501
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  • 19. 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 15; 47(4):1630-5. PubMed ID: 16565402
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  • 20. Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene.
    Shiono T, Hotta Y, Noro M, Sakuma T, Tamai M, Hayakawa M, Hashimoto T, Fujiki K, Kanai A, Nakajima A.
    Jpn J Ophthalmol; 1992 Apr 15; 36(1):69-75. PubMed ID: 1635298
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