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Journal Abstract Search

517 related items for PubMed ID: 17620573

  • 1. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul; 125(7):932-5. PubMed ID: 17620573
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  • 3. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
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  • 5. 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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  • 7. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
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  • 9. 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 10; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
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  • 11. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
    Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP.
    Nat Genet; 1998 Feb 10; 18(2):174-6. PubMed ID: 9462750
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  • 13. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
    Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.
    Mol Vis; 2012 Feb 10; 18():1226-37. PubMed ID: 22665969
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  • 14. 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 10; 51(8):4266-72. PubMed ID: 20237254
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  • 16. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
    Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S, Gonzàlez-Duarte R.
    Invest Ophthalmol Vis Sci; 2000 Mar 10; 41(3):656-9. PubMed ID: 10711677
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  • 20. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 10; 47(4):1630-5. PubMed ID: 16565402
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