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Journal Abstract Search

781 related items for PubMed ID: 20702822

  • 21. 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; 112(12):2115. PubMed ID: 16225923
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  • 23. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
    Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2651-60. PubMed ID: 18281613
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  • 28. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
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  • 30. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
    Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE.
    Retina; 2010 Jan 09; 30(1):51-62. PubMed ID: 19952985
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  • 31. 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 09; 51(8):3884-92. PubMed ID: 20220053
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  • 38. Optical coherence tomography findings in occult macular dystrophy.
    Brockhurst RJ, Sandberg MA.
    Am J Ophthalmol; 2007 Mar 09; 143(3):516-8. PubMed ID: 17317401
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  • 40. AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
    Kolandaivelu S, Ramamurthy V.
    Adv Exp Med Biol; 2014 Mar 09; 801():43-8. PubMed ID: 24664679
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    of 40.