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Journal Abstract Search

595 related items for PubMed ID: 19797231

  • 1. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [Abstract] [Full Text] [Related]

  • 2. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
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  • 8. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 17; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 9. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec 17; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep 17; 102(6):e893-e905. PubMed ID: 38348755
    [Abstract] [Full Text] [Related]

  • 11. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
    Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC.
    Retina; 2012 Jul 17; 32(7):1411-9. PubMed ID: 22466470
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 48(8):3864-71. PubMed ID: 17652762
    [Abstract] [Full Text] [Related]

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  • 14. 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 Aug 17; 23(3-4):395-402. PubMed ID: 16961972
    [Abstract] [Full Text] [Related]

  • 15. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
    Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR.
    Ophthalmology; 2010 Jan 17; 117(1):120-127.e1. PubMed ID: 19818506
    [Abstract] [Full Text] [Related]

  • 16. Diagnostic fundus autofluorescence patterns in achromatopsia.
    Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T.
    Am J Ophthalmol; 2013 Dec 17; 156(6):1211-1219.e2. PubMed ID: 23972307
    [Abstract] [Full Text] [Related]

  • 17. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
    Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC.
    Invest Ophthalmol Vis Sci; 2010 Nov 17; 51(11):5952-7. PubMed ID: 20574029
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 145(6):1099-106. PubMed ID: 18400204
    [Abstract] [Full Text] [Related]

  • 19. Long-term follow-up of two patients with oligocone trichromacy.
    Smirnov V, Drumare I, Bouacha I, Puech B, Defoort-Dhellemmes S.
    Doc Ophthalmol; 2015 Oct 17; 131(2):149-58. PubMed ID: 26138751
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 99(4):571-6. PubMed ID: 25637600
    [Abstract] [Full Text] [Related]

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