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Journal Abstract Search

347 related items for PubMed ID: 10845615

  • 21. 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]

  • 22. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
    [Abstract] [Full Text] [Related]

  • 23. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.
    Invest Ophthalmol Vis Sci; 2019 Mar 01; 60(4):1192-1203. PubMed ID: 30913292
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.
    Hum Mutat; 2001 Jun 02; 17(6):520. PubMed ID: 11385710
    [Abstract] [Full Text] [Related]

  • 26. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
    Zhang X, Yeung KY, Pang CP, Fu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun 02; 19(3):194-7. PubMed ID: 12048676
    [Abstract] [Full Text] [Related]

  • 27. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
    Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW.
    Br J Ophthalmol; 2008 Jan 02; 92(1):95-102. PubMed ID: 17962389
    [Abstract] [Full Text] [Related]

  • 28. 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 02; 47(4):1630-5. PubMed ID: 16565402
    [Abstract] [Full Text] [Related]

  • 29. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y, Abe T, Takeshita T, Sato H, Yanashima K, Tamai M.
    Invest Ophthalmol Vis Sci; 2001 Sep 02; 42(10):2395-400. PubMed ID: 11527955
    [Abstract] [Full Text] [Related]

  • 30. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug 02; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

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  • 32. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb 02; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

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  • 34. Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.
    Liu J, Huang Q, Higdon J, Liu W, Xie T, Yamashita T, Cheon K, Cheng C, Zuo J.
    Hum Mol Genet; 2005 Oct 01; 14(19):2945-58. PubMed ID: 16126734
    [Abstract] [Full Text] [Related]

  • 35. Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.
    Aleman TS, Lam BL, Cideciyan AV, Sumaroka A, Windsor EA, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.
    Eye (Lond); 2009 Jan 01; 23(1):230-3. PubMed ID: 18704120
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 21(2):79-87. PubMed ID: 10916182
    [Abstract] [Full Text] [Related]

  • 37. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
    Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2006 Nov 01; 47(11):5004-10. PubMed ID: 17065520
    [Abstract] [Full Text] [Related]

  • 38. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.
    Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A.
    Invest Ophthalmol Vis Sci; 2007 Jul 01; 48(7):3283-91. PubMed ID: 17591900
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