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Journal Abstract Search

178 related items for PubMed ID: 21107338

  • 1. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
    Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L.
    J Hum Genet; 2011 Jan; 56(1):22-8. PubMed ID: 21107338
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  • 2. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
    Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.
    Hum Mutat; 2005 Mar; 25(3):248-58. PubMed ID: 15712225
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  • 5. Clinical and genetic features of Hungarian achromatopsia patients.
    Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A.
    Mol Vis; 2005 Nov 17; 11():996-1001. PubMed ID: 16319819
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  • 6. 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 17; 60(3):187-97. PubMed ID: 27040408
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  • 7. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
    Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.
    Vis Neurosci; 2006 May 17; 23(3-4):395-402. PubMed ID: 16961972
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  • 11. 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 17; 41(1):121-134. PubMed ID: 32869108
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  • 13. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep 17; 102(6):e893-e905. PubMed ID: 38348755
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  • 16. 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 Sep 17; 26():588-602. PubMed ID: 32913385
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  • 17. Progressive cone dystrophy associated with mutation in CNGB3.
    Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.
    Invest Ophthalmol Vis Sci; 2004 Jun 17; 45(6):1975-82. PubMed ID: 15161866
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  • 19. 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 17; 121(3-4):433-9. PubMed ID: 17265047
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  • 20. [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
    Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.
    Ophthalmologe; 2004 Aug 17; 101(8):830-5. PubMed ID: 15459792
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