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

325 related items for PubMed ID: 16961972

  • 41. A mutation in gene CNGA3 is associated with day blindness in sheep.
    Reicher S, Seroussi E, Gootwine E.
    Genomics; 2010 Feb; 95(2):101-4. PubMed ID: 19874885
    [Abstract] [Full Text] [Related]

  • 42. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.
    Vincent A, Wright T, Billingsley G, Westall C, Héon E.
    Ophthalmic Genet; 2011 Jun; 32(2):107-13. PubMed ID: 21268679
    [Abstract] [Full Text] [Related]

  • 43. CNGA3 mutations in hereditary cone photoreceptor disorders.
    Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S.
    Am J Hum Genet; 2001 Oct; 69(4):722-37. PubMed ID: 11536077
    [Abstract] [Full Text] [Related]

  • 44. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
    Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L.
    J Hum Genet; 2011 Jan; 56(1):22-8. PubMed ID: 21107338
    [Abstract] [Full Text] [Related]

  • 45. 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; 132(9):1076-83. PubMed ID: 24903488
    [Abstract] [Full Text] [Related]

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

  • 47.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 48. Achromatopsia as a potential candidate for gene therapy.
    Pang JJ, Alexander J, Lei B, Deng W, Zhang K, Li Q, Chang B, Hauswirth WW.
    Adv Exp Med Biol; 2010 Jun; 664():639-46. PubMed ID: 20238068
    [Abstract] [Full Text] [Related]

  • 49. Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
    Nakamura M, Yamamoto S, Okada M, Ito S, Tano Y, Miyake Y.
    Ophthalmology; 2004 Jul; 111(7):1410-4. PubMed ID: 15234147
    [Abstract] [Full Text] [Related]

  • 50. Tissue specific expression of alternative splice forms of human cyclic nucleotide gated channel subunit CNGA3.
    Cassar SC, Chen J, Zhang D, Gopalakrishnan M.
    Mol Vis; 2004 Oct 29; 10():808-13. PubMed ID: 15534583
    [Abstract] [Full Text] [Related]

  • 51. 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 29; 69(2):183-189. PubMed ID: 30804581
    [Abstract] [Full Text] [Related]

  • 52. 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 29; 116(10):1984-9.e1. PubMed ID: 19592100
    [Abstract] [Full Text] [Related]

  • 53. 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
    [Abstract] [Full Text] [Related]

  • 54. 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]

  • 55. CNGA3 mutations in two United Arab Emirates families with achromatopsia.
    Ahuja Y, Kohl S, Traboulsi EI.
    Mol Vis; 2008 Jul 10; 14():1293-7. PubMed ID: 18636117
    [Abstract] [Full Text] [Related]

  • 56. Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.
    Gootwine E, Abu-Siam M, Obolensky A, Rosov A, Honig H, Nitzan T, Shirak A, Ezra-Elia R, Yamin E, Banin E, Averbukh E, Hauswirth WW, Ofri R, Seroussi E.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1577-1584. PubMed ID: 28282490
    [Abstract] [Full Text] [Related]

  • 57. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr 01; 84(2):254-8. PubMed ID: 16637847
    [Abstract] [Full Text] [Related]

  • 58. Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
    Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.
    Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2631-2640. PubMed ID: 31237654
    [Abstract] [Full Text] [Related]

  • 59. Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.
    McKyton A, Averbukh E, Marks Ohana D, Levin N, Banin E.
    J Neurosci; 2021 Sep 01; 41(35):7363-7371. PubMed ID: 34349002
    [Abstract] [Full Text] [Related]

  • 60. 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 01; 145(6):1099-106. PubMed ID: 18400204
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 17.