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Journal Abstract Search

169 related items for PubMed ID: 20514315

  • 1. Hereditary and clinical features of retinitis pigmentosa in Koreans.
    Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H.
    J Korean Med Sci; 2010 Jun; 25(6):918-23. PubMed ID: 20514315
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  • 4. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
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  • 8. [Complicated cataracts in various forms of retinitis pigmentosa. Type and incidence].
    Auffarth GU, Tetz MR, Krastel H, Blankenagel A, Völcker HE.
    Ophthalmologe; 1997 Sep; 94(9):642-6. PubMed ID: 9410231
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  • 9. Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study.
    Adilovic M, Ignjatic E, Cabric A.
    Acta Inform Med; 2022 Dec; 30(4):329-333. PubMed ID: 36467319
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  • 11. Retinitis pigmentosa inversa.
    Ferrucci S, Anderson SF, Townsend JC.
    Optom Vis Sci; 1998 Aug; 75(8):560-70. PubMed ID: 9734800
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  • 12. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
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  • 14. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H, Diez Montero C, Villanueva Gómez A, Lobo Valentin R, Montero-Moreno JA.
    Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
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  • 15. Clinical and genetic heterogeneity in retinitis pigmentosa.
    Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL.
    Hum Genet; 1990 Oct; 85(6):635-42. PubMed ID: 2227956
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  • 16. 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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  • 17. Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
    Beryozkin A, Khateb S, Idrobo-Robalino CA, Khan MI, Cremers FPM, Obolensky A, Hanany M, Mezer E, Chowers I, Newman H, Ben-Yosef T, Sharon D, Banin E.
    Sci Rep; 2020 Sep 16; 10(1):15156. PubMed ID: 32938956
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  • 18. Retinitis Pigmentosa (Non-syndromic).
    Tsang SH, Sharma T.
    Adv Exp Med Biol; 2018 Sep 16; 1085():125-130. PubMed ID: 30578498
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  • 19. Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.
    Tsui I, Chou CL, Palmer N, Lin CS, Tsang SH.
    Curr Eye Res; 2008 Nov 16; 33(11):1014-22. PubMed ID: 19085385
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  • 20. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun 16; 124(6):884-895. PubMed ID: 28341475
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