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Journal Abstract Search

226 related items for PubMed ID: 33562422

  • 21. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
    Jinda W, Tuekprakhon A, Thongnoppakhun W, Limwongse C, Trinavarat A, Atchaneeyasakul LO.
    Int Ophthalmol; 2021 Jan; 41(1):121-134. PubMed ID: 32869108
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  • 22. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
    Khan NW, Wissinger B, Kohl S, Sieving PA.
    Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3864-71. PubMed ID: 17652762
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  • 23. Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
    Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P.
    Int J Mol Sci; 2021 Jul 22; 22(15):. PubMed ID: 34360608
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  • 24. Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
    Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR.
    Mol Vis; 2014 Jul 22; 20():1732-9. PubMed ID: 25558176
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  • 25. Deep Phenotyping of PDE6C-Associated Achromatopsia.
    Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M.
    Invest Ophthalmol Vis Sci; 2019 Dec 02; 60(15):5112-5123. PubMed ID: 31826238
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  • 26. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
    Wiszniewski W, Lewis RA, Lupski JR.
    Hum Genet; 2007 May 02; 121(3-4):433-9. PubMed ID: 17265047
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  • 27. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
    Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL.
    Ophthalmic Genet; 2013 Sep 02; 34(3):119-29. PubMed ID: 23362848
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  • 29. A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
    Hassall MM, Barnard AR, Orlans HO, McClements ME, Charbel Issa P, Aslam SA, MacLaren RE.
    Invest Ophthalmol Vis Sci; 2018 Dec 03; 59(15):6102-6110. PubMed ID: 30592498
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  • 30. Photoreceptor Structure in GNAT2-Associated Achromatopsia.
    Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M.
    Invest Ophthalmol Vis Sci; 2020 Mar 09; 61(3):40. PubMed ID: 32203983
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  • 31. Achromatopsia: Genetics and Gene Therapy.
    Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C.
    Mol Diagn Ther; 2022 Jan 09; 26(1):51-59. PubMed ID: 34860352
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  • 32. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
    Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H.
    Jpn J Ophthalmol; 2017 Jan 09; 61(1):92-98. PubMed ID: 27718025
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  • 33. 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 09; 117(4):825-30.e1. PubMed ID: 20079539
    [Abstract] [Full Text] [Related]

  • 34. Molecular genetic cause of achromatopsia in two patients of Czech origin.
    Hlavatá L, Ďuďáková Ľ, Moravíková J, Zobanová A, Kousal B, Lišková P.
    Cesk Slov Oftalmol; 2019 Apr 09; 75(5):272-276. PubMed ID: 32397729
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  • 39. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
    Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2015 Jun 09; 36(2):137-44. PubMed ID: 25605338
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