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Journal Abstract Search

160 related items for PubMed ID: 21519034

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  • 3. 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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  • 4. 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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  • 6. Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
    Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N, Kato S.
    Mol Vis; 2019 Oct; 25():766-779. PubMed ID: 31814702
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  • 8. 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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  • 11. Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
    Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S.
    Ophthalmic Genet; 2018 Oct; 39(5):589-602. PubMed ID: 30153090
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  • 14. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019 Oct; 25():35-46. PubMed ID: 30804660
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  • 15. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
    Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4579-88. PubMed ID: 17003455
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  • 18. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.
    Wei C, Xiao T, Cheng J, Fu J, Zhou Q, Yang L, Lv H, Fu J.
    Biosci Rep; 2020 Jun 26; 40(6):. PubMed ID: 32436957
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  • 19. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr 26; 51(4):2236-42. PubMed ID: 19933189
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  • 20. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
    Iwanami M, Oshikawa M, Nishida T, Nakadomari S, Kato S.
    Invest Ophthalmol Vis Sci; 2012 Feb 27; 53(2):1033-40. PubMed ID: 22302105
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