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Journal Abstract Search

200 related items for PubMed ID: 34449556

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  • 2. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep; 102(6):e893-e905. PubMed ID: 38348755
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  • 3. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
    Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH.
    JAMA Ophthalmol; 2014 Apr 01; 132(4):437-45. PubMed ID: 24504161
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  • 7. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
    Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    Jpn J Ophthalmol; 2016 May 01; 60(3):187-97. PubMed ID: 27040408
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  • 8. Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
    Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.
    Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2631-2640. PubMed ID: 31237654
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  • 9. 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 03; 99(4):571-6. PubMed ID: 25637600
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  • 10. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
    Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
    Ophthalmology; 2010 Apr 03; 117(4):825-30.e1. PubMed ID: 20079539
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  • 12. 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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  • 13. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
    Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E, RD-CURE Consortium.
    Invest Ophthalmol Vis Sci; 2017 Feb 01; 58(2):821-832. PubMed ID: 28159970
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  • 14. Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
    Amaral RAS, Motta FL, Zin OA, da Palma MM, Rodrigues GD, Sallum JMF.
    Genes (Basel); 2023 Jun 20; 14(6):. PubMed ID: 37372476
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  • 18. 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 20; 51(1):89-95. PubMed ID: 19797231
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  • 19. 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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  • 20. Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.
    Triantafylla M, Papageorgiou E, Thomas MG, McLean R, Kohl S, Sheth V, Tu Z, Proudlock FA, Gottlob I.
    Invest Ophthalmol Vis Sci; 2022 Aug 02; 63(9):6. PubMed ID: 35930270
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