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169 related items for PubMed ID: 1635298

  • 1. 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; 36(1):69-75. PubMed ID: 1635298
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
    Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.
    Ophthalmic Genet; 2000 Dec; 21(4):251-6. PubMed ID: 11135497
    [Abstract] [Full Text] [Related]

  • 5. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
    Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL.
    N Engl J Med; 1990 Nov 08; 323(19):1302-7. PubMed ID: 2215617
    [Abstract] [Full Text] [Related]

  • 6. 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 Nov 08; 1(5):319-27. PubMed ID: 1477634
    [Abstract] [Full Text] [Related]

  • 7. Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.
    Budu, Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y.
    Jpn J Ophthalmol; 2000 Nov 08; 44(6):610-4. PubMed ID: 11094174
    [Abstract] [Full Text] [Related]

  • 8. 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 08; 111(10):1910-6. PubMed ID: 15465556
    [Abstract] [Full Text] [Related]

  • 9. 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 08; 21(2):79-87. PubMed ID: 10916182
    [Abstract] [Full Text] [Related]

  • 10. Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa.
    Fujiki K, Hotta Y, Murakami A, Yoshii M, Hayakawa M, Ichikawa T, Takeda M, Akeo K, Okisaka S, Kanai A.
    Jpn J Hum Genet; 1995 Sep 08; 40(3):271-7. PubMed ID: 8527802
    [Abstract] [Full Text] [Related]

  • 11. 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 08; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 12. 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 08; 18(2):63-70. PubMed ID: 9228242
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
    Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T, Tamai M, Hikiji K, Kawaguchi R.
    Jpn J Hum Genet; 1992 Jun 25; 37(2):125-32. PubMed ID: 1391967
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  • 17. Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.
    Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE.
    Arch Ophthalmol; 1992 Jan 25; 110(1):54-62. PubMed ID: 1731723
    [Abstract] [Full Text] [Related]

  • 18. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
    Sullivan LJ, Makris GS, Dickinson P, Mulhall LE, Forrest S, Cotton RG, Loughnan MS.
    Arch Ophthalmol; 1993 Nov 25; 111(11):1512-7. PubMed ID: 8240107
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