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Journal Abstract Search

226 related items for PubMed ID: 33562422

  • 1. Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
    Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F.
    Int J Mol Sci; 2021 Feb 07; 22(4):. PubMed ID: 33562422
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  • 2. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
    Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D.
    Ophthalmology; 2015 May 07; 122(5):997-1007. PubMed ID: 25616768
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  • 3. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep 07; 102(6):e893-e905. PubMed ID: 38348755
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  • 4. Novel CNGA3 mutations in Chinese patients with achromatopsia.
    Liang X, Dong F, Li H, Li H, Yang L, Sui R.
    Br J Ophthalmol; 2015 Apr 07; 99(4):571-6. PubMed ID: 25637600
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  • 5. GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
    Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S.
    Retina; 2024 Oct 01; 44(10):1836-1844. PubMed ID: 39287548
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  • 7. Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
    Sun W, Li S, Xiao X, Wang P, Zhang Q.
    Mol Vis; 2020 Oct 01; 26():588-602. PubMed ID: 32913385
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  • 8. Retinal structure and function in achromatopsia: implications for gene therapy.
    Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M.
    Ophthalmology; 2014 Jan 01; 121(1):234-245. PubMed ID: 24148654
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  • 10. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan 01; 51(1):89-95. PubMed ID: 19797231
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  • 15. Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
    Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
    Ophthalmology; 2009 Oct 01; 116(10):1984-9.e1. PubMed ID: 19592100
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  • 18. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
    Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J, ACHM-001 Study Group.
    Invest Ophthalmol Vis Sci; 2016 Aug 01; 57(10):3984-95. PubMed ID: 27479814
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  • 19. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
    Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC.
    Invest Ophthalmol Vis Sci; 2010 Nov 01; 51(11):5952-7. PubMed ID: 20574029
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