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Journal Abstract Search

167 related items for PubMed ID: 24269407

  • 1. [A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].
    Burgueño-Montañés C, Colunga Cueva M, Costales Álvarez C.
    Arch Soc Esp Oftalmol; 2014 Mar; 89(3):107-9. PubMed ID: 24269407
    [Abstract] [Full Text] [Related]

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

  • 3. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
    Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B, Achromatopsia Clinical Study Group.
    Hum Mutat; 2008 Oct; 29(10):1228-36. PubMed ID: 18521937
    [Abstract] [Full Text] [Related]

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

  • 5. 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; 60(3):187-97. PubMed ID: 27040408
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 29; 122(5):997-1007. PubMed ID: 25616768
    [Abstract] [Full Text] [Related]

  • 8. Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
    Li FF, Huang XF, Chen J, Yu XD, Zheng MQ, Lu F, Jin ZB, Gan DK.
    J Transl Med; 2015 Oct 22; 13():334. PubMed ID: 26493561
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
    Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE.
    PLoS One; 2015 Mar 22; 10(9):e0138943. PubMed ID: 26407004
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families.
    Arshad MW, Lee Y, Malik MA, Khan J, Khan A, Kareem A, Kang C, Shabbir MI.
    J Pak Med Assoc; 2019 Feb 17; 69(2):183-189. PubMed ID: 30804581
    [Abstract] [Full Text] [Related]

  • 14. Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.
    Lam K, Guo H, Wilson GA, Kohl S, Wong F.
    Arch Ophthalmol; 2011 Sep 17; 129(9):1212-7. PubMed ID: 21911670
    [Abstract] [Full Text] [Related]

  • 15. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
    Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.
    Nat Genet; 1998 Jul 17; 19(3):257-9. PubMed ID: 9662398
    [Abstract] [Full Text] [Related]

  • 16. 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 17; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 17. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
    Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B.
    Hum Mutat; 2010 Jul 17; 31(7):830-9. PubMed ID: 20506298
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia.
    Pang JJ, Deng WT, Dai X, Lei B, Everhart D, Umino Y, Li J, Zhang K, Mao S, Boye SL, Liu L, Chiodo VA, Liu X, Shi W, Tao Y, Chang B, Hauswirth WW.
    PLoS One; 2012 Sep 01; 7(4):e35250. PubMed ID: 22509403
    [Abstract] [Full Text] [Related]

  • 20. Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.
    Banin E, Gootwine E, Obolensky A, Ezra-Elia R, Ejzenberg A, Zelinger L, Honig H, Rosov A, Yamin E, Sharon D, Averbukh E, Hauswirth WW, Ofri R.
    Mol Ther; 2015 Sep 01; 23(9):1423-33. PubMed ID: 26087757
    [Abstract] [Full Text] [Related]

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