These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

175 related items for PubMed ID: 20454696

  • 1. 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]

  • 2. Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
    Saqib MA, Awan BM, Sarfraz M, Khan MN, Rashid S, Ansar M.
    Jpn J Ophthalmol; 2011 Nov 29; 55(6):676-80. PubMed ID: 21912902
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
    Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM.
    Eur J Hum Genet; 2015 Apr 29; 23(4):473-80. PubMed ID: 25052312
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 117(4):825-30.e1. PubMed ID: 20079539
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 69(2):183-189. PubMed ID: 30804581
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 122(5):997-1007. PubMed ID: 25616768
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 48(8):3864-71. PubMed ID: 17652762
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 99(4):571-6. PubMed ID: 25637600
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 22; 60(3):187-97. PubMed ID: 27040408
    [Abstract] [Full Text] [Related]

  • 14. CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
    Häfliger IM, Marchionatti E, Stengård M, Wolf-Hofstetter S, Paris JM, Jacinto JGP, Watté C, Voelter K, Occelli LM, Komáromy AM, Oevermann A, Goepfert C, Borgo A, Roduit R, Spengeler M, Seefried FR, Drögemüller C.
    Int J Mol Sci; 2021 Nov 18; 22(22):. PubMed ID: 34830323
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
    Li S, Huang L, Xiao X, Jia X, Guo X, Zhang Q.
    JAMA Ophthalmol; 2014 Sep 17; 132(9):1076-83. PubMed ID: 24903488
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 20; 41(1):121-134. PubMed ID: 32869108
    [Abstract] [Full Text] [Related]

  • 19. 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 Jan 20; 27():588-600. PubMed ID: 34703197
    [Abstract] [Full Text] [Related]

  • 20. Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
    Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P.
    J Clin Invest; 2018 Dec 03; 128(12):5663-5675. PubMed ID: 30418171
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.