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Pubmed for Handhelds

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Journal Abstract Search

493 related items for PubMed ID: 11095629

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  • 24. 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
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  • 27. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
    Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2006 Sep 01; 47(9):3736-44. PubMed ID: 16936081
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  • 28. Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
    Ruiz A, Kuehn MH, Andorf JL, Stone E, Hageman GS, Bok D.
    Invest Ophthalmol Vis Sci; 2001 Jan 01; 42(1):31-7. PubMed ID: 11133845
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  • 33. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 01; 49(4):318-45. PubMed ID: 12553167
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  • 35. 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 01; 48(11):5160-7. PubMed ID: 17962469
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  • 37. Effect of gene therapy on visual function in Leber's congenital amaurosis.
    Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR.
    N Engl J Med; 2008 May 22; 358(21):2231-9. PubMed ID: 18441371
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  • 38. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
    Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.
    Hum Mutat; 2004 Apr 22; 23(4):306-17. PubMed ID: 15024725
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  • 39. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
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