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253 related items for PubMed ID: 17265047

  • 1. 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; 121(3-4):433-9. PubMed ID: 17265047
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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 22; 13(3):302-8. PubMed ID: 15657609
    [Abstract] [Full Text] [Related]

  • 4. 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 22; 122(5):997-1007. PubMed ID: 25616768
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 38(11):1579-1591. PubMed ID: 28795510
    [Abstract] [Full Text] [Related]

  • 6. 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 22; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 7. 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 22; 48(8):3864-71. PubMed ID: 17652762
    [Abstract] [Full Text] [Related]

  • 8. 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 22; 34(3):119-29. PubMed ID: 23362848
    [Abstract] [Full Text] [Related]

  • 9. 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 22; 116(10):1984-9.e1. PubMed ID: 19592100
    [Abstract] [Full Text] [Related]

  • 10. 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 Oct 22; 23(3-4):395-402. PubMed ID: 16961972
    [Abstract] [Full Text] [Related]

  • 11. 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 Oct 22; 27():588-600. PubMed ID: 34703197
    [Abstract] [Full Text] [Related]

  • 12. 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 22; 117(4):825-30.e1. PubMed ID: 20079539
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 29; 45(6):1975-82. PubMed ID: 15161866
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 41(1):121-134. PubMed ID: 32869108
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. [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
    [Abstract] [Full Text] [Related]

  • 20. Clinical features of achromatopsia in Swedish patients with defined genotypes.
    Eksandh L, Kohl S, Wissinger B.
    Ophthalmic Genet; 2002 Jun 17; 23(2):109-20. PubMed ID: 12187429
    [Abstract] [Full Text] [Related]

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