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Journal Abstract Search

255 related items for PubMed ID: 28795510

  • 1. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
    Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S, ACHM Study Group.
    Hum Mutat; 2017 Nov; 38(11):1579-1591. PubMed ID: 28795510
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  • 2. 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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  • 3. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
    Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.
    Eur J Hum Genet; 2005 Mar; 13(3):302-8. PubMed ID: 15657609
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  • 5. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
    Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.
    Hum Mol Genet; 2000 Sep 01; 9(14):2107-16. PubMed ID: 10958649
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  • 6. 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 01; 121(3-4):433-9. PubMed ID: 17265047
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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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  • 9. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
    Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.
    Mol Vis; 2010 Apr 29; 16():774-81. PubMed ID: 20454696
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  • 10. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
    Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S.
    Hum Mutat; 2022 Jul 29; 43(7):832-858. PubMed ID: 35332618
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  • 11. Gene Therapy for Achromatopsia.
    Baxter MF, Borchert GA.
    Int J Mol Sci; 2024 Sep 09; 25(17):. PubMed ID: 39273686
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  • 14. 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 09; 99(4):571-6. PubMed ID: 25637600
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  • 16. 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 Apr 09; 23(3-4):395-402. PubMed ID: 16961972
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  • 17. A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
    Aweidah H, Salameh M, Yahalom C, Blumenfeld A, Macarov M, Weisschuh N, Kohl S, Banin E, Sharon D.
    Mol Vis; 2021 Apr 09; 27():588-600. PubMed ID: 34703197
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