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Journal Abstract Search

268 related items for PubMed ID: 10845615

  • 21. 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
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  • 22. 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
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  • 23. 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
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  • 24. 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
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  • 25. 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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  • 26. 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
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  • 27. [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
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  • 30. 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
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  • 31. 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
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  • 32. 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 Aug 02; 1(5):319-27. PubMed ID: 1477634
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  • 34. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.
    Br J Ophthalmol; 2008 Aug 02; 92(8):1086-91. PubMed ID: 18653602
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  • 35. 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
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  • 38. 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
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  • 40. Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography.
    Nagy D, Schönfisch B, Zrenner E, Jägle H.
    Invest Ophthalmol Vis Sci; 2008 Oct 01; 49(10):4664-71. PubMed ID: 18566474
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