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Journal Abstract Search

513 related items for PubMed ID: 10937591

  • 41. 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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  • 43. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
    Lorenz B, Poliakov E, Schambeck M, Friedburg C, Preising MN, Redmond TM.
    Invest Ophthalmol Vis Sci; 2008 Dec 22; 49(12):5235-42. PubMed ID: 18599565
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  • 44. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
    Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.
    Arch Ophthalmol; 2004 Jul 22; 122(7):1029-37. PubMed ID: 15249368
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  • 45. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
    Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ.
    Invest Ophthalmol Vis Sci; 2005 Jun 22; 46(6):1891-8. PubMed ID: 15914600
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  • 46. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
    Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.
    Ophthalmology; 2003 Mar 22; 110(3):549-58. PubMed ID: 12623820
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  • 47. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA.
    Invest Ophthalmol Vis Sci; 2007 Jan 22; 48(1):332-8. PubMed ID: 17197551
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  • 48. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG, Anderson JL, Fish GE.
    Ophthalmology; 1999 Feb 22; 106(2):258-68. PubMed ID: 9951474
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  • 52. RP cone-rod degeneration.
    Heckenlively JR.
    Trans Am Ophthalmol Soc; 1987 Feb 22; 85():438-70. PubMed ID: 3447340
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  • 59. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
    Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.
    Invest Ophthalmol Vis Sci; 2012 Jun 08; 53(7):3463-72. PubMed ID: 22531706
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