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Journal Abstract Search

146 related items for PubMed ID: 18515597

  • 1. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
    Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
    Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2709-13. PubMed ID: 18515597
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  • 2. 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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  • 3. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
    Tuson M, Marfany G, Gonzàlez-Duarte R.
    Am J Hum Genet; 2004 Jan; 74(1):128-38. PubMed ID: 14681825
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  • 4. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
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  • 6. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
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  • 7. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4387-94. PubMed ID: 20375346
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  • 9. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
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  • 10. 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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  • 14. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621
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  • 15. Discordance for retinitis pigmentosa in two monozygotic twin pairs.
    Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O, Takahashi WY, Lissens W, de Baere E, Leroy BP.
    Retina; 2011 Jun; 31(6):1164-9. PubMed ID: 21283054
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  • 16. Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein.
    Inagaki Y, Mitsutake S, Igarashi Y.
    Biochem Biophys Res Commun; 2006 May 12; 343(3):982-7. PubMed ID: 16581028
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  • 18. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr 12; 48(4):1824-31. PubMed ID: 17389517
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  • 20. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
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