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320 related items for PubMed ID: 20375346

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
    [Abstract] [Full Text] [Related]

  • 4. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2013 Mar 01; 54(3):2068-75. PubMed ID: 23449718
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 48(12):5431-8. PubMed ID: 18055789
    [Abstract] [Full Text] [Related]

  • 6. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.
    Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.
    J Med Genet; 2010 Aug 01; 47(8):533-7. PubMed ID: 20507925
    [Abstract] [Full Text] [Related]

  • 7. EYS is a major gene for rod-cone dystrophies in France.
    Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2010 May 01; 31(5):E1406-35. PubMed ID: 20333770
    [Abstract] [Full Text] [Related]

  • 8. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2010 Aug 01; 51(8):4266-72. PubMed ID: 20237254
    [Abstract] [Full Text] [Related]

  • 9. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
    Bandah D, Merin S, Ashhab M, Banin E, Sharon D.
    Arch Ophthalmol; 2009 Mar 01; 127(3):297-302. PubMed ID: 19273793
    [Abstract] [Full Text] [Related]

  • 10. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
    Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Aug 01; 51(8):3884-92. PubMed ID: 20220053
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 12. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
    Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.
    BMC Med Genet; 2010 Aug 10; 11():121. PubMed ID: 20696082
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 42(10):2395-400. PubMed ID: 11527955
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  • 15. Copy-number variations in EYS: a significant event in the appearance of arRP.
    Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
    Invest Ophthalmol Vis Sci; 2011 Jul 29; 52(8):5625-31. PubMed ID: 21519034
    [Abstract] [Full Text] [Related]

  • 16. 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 29; 51(4):2236-42. PubMed ID: 19933189
    [Abstract] [Full Text] [Related]

  • 17. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep 29; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 117(11):2169-77.e3. PubMed ID: 20591486
    [Abstract] [Full Text] [Related]

  • 19. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 29; 48(12):5653-61. PubMed ID: 18055816
    [Abstract] [Full Text] [Related]

  • 20. 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 29; 39(5):589-602. PubMed ID: 30153090
    [Abstract] [Full Text] [Related]

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