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Journal Abstract Search

513 related items for PubMed ID: 10937591

  • 21. A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
    Poehner WJ, Fossarello M, Rapoport AL, Aleman TS, Cideciyan AV, Jacobson SG, Wright AF, Danciger M, Farber DB.
    Mol Vis; 2000 Oct 30; 6():192-8. PubMed ID: 11062306
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  • 22. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.
    Invest Ophthalmol Vis Sci; 2012 Jun 22; 53(7):3927-38. PubMed ID: 22570351
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  • 23. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec 22; 112(12):2115. PubMed ID: 16225923
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  • 24. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369
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  • 25. Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
    Al-Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi EI.
    Am J Ophthalmol; 2004 Feb 12; 137(2):375-7. PubMed ID: 14962443
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  • 26. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov 12; 48(11):5160-7. PubMed ID: 17962469
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  • 27. 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 12; 120(6):1239-46. PubMed ID: 23499059
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  • 28. 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 12; 51(8):3884-92. PubMed ID: 20220053
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  • 34. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
    McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee RW, Malicki J.
    Invest Ophthalmol Vis Sci; 2009 Jul 12; 50(7):3185-7. PubMed ID: 19407021
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  • 38. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
    Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2007 Dec 12; 48(12):5684-9. PubMed ID: 18055820
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  • 39. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
    Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.
    Klin Monbl Augenheilkd; 2014 Apr 12; 231(4):405-10. PubMed ID: 24771178
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