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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 21268679)

  • 21. 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; 13():334. PubMed ID: 26493561
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S; Kamei S; Sénéćhal A; Lopez S; Bazalgette C; Bazalgette C; Eliaou CM; Zanlonghi X; Hamel CP
    Am J Ophthalmol; 2008 Jun; 145(6):1099-106. PubMed ID: 18400204
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M; Wilkie SE; Jenkins S; Holder GE; Hunt DM; Moore AT; Webster AR
    Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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;
    Hum Mutat; 2008 Oct; 29(10):1228-36. PubMed ID: 18521937
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG; Bertelsen M; Gundestrup S; Grønskov K; Kessel L
    Acta Ophthalmol; 2024 Sep; 102(6):e893-e905. PubMed ID: 38348755
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 16():774-81. PubMed ID: 20454696
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 23(4):473-80. PubMed ID: 25052312
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
    Zobor D; Werner A; Stanzial F; Benedicenti F; Rudolph G; Kellner U; Hamel C; Andréasson S; Zobor G; Strasser T; Wissinger B; Kohl S; Zrenner E;
    Invest Ophthalmol Vis Sci; 2017 Feb; 58(2):821-832. PubMed ID: 28159970
    [TBL] [Abstract][Full Text] [Related]  

  • 29. REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
    Langlo CS; Erker LR; Parker M; Patterson EJ; Higgins BP; Summerfelt P; Razeen MM; Collison FT; Fishman GA; Kay CN; Zhang J; Weleber RG; Yang P; Pennesi ME; Lam BL; Chulay JD; Dubra A; Hauswirth WW; Wilson DJ; Carroll J;
    Retina; 2017 Oct; 37(10):1956-1966. PubMed ID: 28145975
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo I; Vanakker OM; Smith A; Leroy BP; Robson AG; Jenkins SA; Coucke PJ; Bird AC; De Paepe A; Holder GE; Webster AR
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4250-6. PubMed ID: 17724214
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
    Koeppen K; Reuter P; Kohl S; Baumann B; Ladewig T; Wissinger B
    Eur J Neurosci; 2008 May; 27(9):2391-401. PubMed ID: 18445228
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
    Patel KA; Bartoli KM; Fandino RA; Ngatchou AN; Woch G; Carey J; Tanaka JC
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2282-90. PubMed ID: 15980212
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 128(12):5663-5675. PubMed ID: 30418171
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
    Jiang L; Katz BJ; Yang Z; Zhao Y; Faulkner N; Hu J; Baird J; Baehr W; Creel DJ; Zhang K
    Mol Vis; 2005 Feb; 11():143-51. PubMed ID: 15735604
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia.
    Michalakis S; Mühlfriedel R; Tanimoto N; Krishnamoorthy V; Koch S; Fischer MD; Becirovic E; Bai L; Huber G; Beck SC; Fahl E; Büning H; Schmidt J; Zong X; Gollisch T; Biel M; Seeliger MW
    Adv Exp Med Biol; 2012; 723():183-9. PubMed ID: 22183332
    [No Abstract]   [Full Text] [Related]  

  • 36. 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; 129(9):1212-7. PubMed ID: 21911670
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
    Fischer MD; Michalakis S; Wilhelm B; Zobor D; Muehlfriedel R; Kohl S; Weisschuh N; Ochakovski GA; Klein R; Schoen C; Sothilingam V; Garcia-Garrido M; Kuehlewein L; Kahle N; Werner A; Dauletbekov D; Paquet-Durand F; Tsang S; Martus P; Peters T; Seeliger M; Bartz-Schmidt KU; Ueffing M; Zrenner E; Biel M; Wissinger B
    JAMA Ophthalmol; 2020 Jun; 138(6):643-651. PubMed ID: 32352493
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
    Rojas CV; María LS; Santos JL; Cortés F; Alliende MA
    Eur J Hum Genet; 2002 Oct; 10(10):638-42. PubMed ID: 12357335
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 116(10):1984-9.e1. PubMed ID: 19592100
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 99(4):571-6. PubMed ID: 25637600
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.