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362 related items for PubMed ID: 11527955

  • 21. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
    Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.
    Am J Med Genet; 2001 Dec 01; 104(3):232-8. PubMed ID: 11754050
    [Abstract] [Full Text] [Related]

  • 22. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
    Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S, Gonzàlez-Duarte R.
    Invest Ophthalmol Vis Sci; 2000 Mar 01; 41(3):656-9. PubMed ID: 10711677
    [Abstract] [Full Text] [Related]

  • 23. 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 01; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 24. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
    [Abstract] [Full Text] [Related]

  • 25. 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 17; 21(4):251-6. PubMed ID: 11135497
    [Abstract] [Full Text] [Related]

  • 26. Targeted disruption of FSCN2 gene induces retinopathy in mice.
    Yokokura S, Wada Y, Nakai S, Sato H, Yao R, Yamanaka H, Ito S, Sagara Y, Takahashi M, Nakamura Y, Tamai M, Noda T.
    Invest Ophthalmol Vis Sci; 2005 Aug 17; 46(8):2905-15. PubMed ID: 16043865
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP, Rucinski DE, Chen SH, Berson EL.
    Invest Ophthalmol Vis Sci; 1999 Jul 17; 40(8):1859-65. PubMed ID: 10393062
    [Abstract] [Full Text] [Related]

  • 29. 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 17; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 30. [Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa].
    Wada Y, Tamai M.
    Nippon Ganka Gakkai Zasshi; 2003 Nov 17; 107(11):687-94. PubMed ID: 14661542
    [Abstract] [Full Text] [Related]

  • 31. 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 17; 47(4):1630-5. PubMed ID: 16565402
    [Abstract] [Full Text] [Related]

  • 32. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.
    Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, Siciliano MJ, Bryan J.
    Genomics; 2000 Apr 15; 65(2):146-56. PubMed ID: 10783262
    [Abstract] [Full Text] [Related]

  • 33. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
    Cui Y, Zhao KX, Wang L, Wang Q, Zhang W, Chen WY, Wang LM.
    Zhonghua Yan Ke Za Zhi; 2003 Jan 15; 39(1):28-32. PubMed ID: 12760810
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 40(3):271-7. PubMed ID: 8527802
    [Abstract] [Full Text] [Related]

  • 35. 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 15; 37(2):125-32. PubMed ID: 1391967
    [Abstract] [Full Text] [Related]

  • 36. [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].
    Xi XH, Zheng D, Xia K, Pan Q, Lei LY, Liu Z, Tang CZ, Xia JH, Jiang DY, Deng HX.
    Zhonghua Yan Ke Za Zhi; 2005 Nov 15; 41(11):1020-6. PubMed ID: 16318756
    [Abstract] [Full Text] [Related]

  • 37. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.
    Zhang Q, Li S, Xiao X, Jia X, Guo X.
    Invest Ophthalmol Vis Sci; 2007 Feb 15; 48(2):530-3. PubMed ID: 17251446
    [Abstract] [Full Text] [Related]

  • 38. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
    Sippel KC, DeStefano JD, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1998 Mar 15; 39(3):665-70. PubMed ID: 9501883
    [Abstract] [Full Text] [Related]

  • 39. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
    Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.
    Hum Mutat; 2008 Jun 15; 29(6):869-78. PubMed ID: 18412284
    [Abstract] [Full Text] [Related]

  • 40. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
    Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS.
    Eur J Hum Genet; 2000 Oct 15; 8(10):783-7. PubMed ID: 11039579
    [Abstract] [Full Text] [Related]

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