BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 21268679)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 117(1):120-127.e1. PubMed ID: 19818506
    [TBL] [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; 122(5):997-1007. PubMed ID: 25616768
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
    Mizrahi-Meissonnier L; Merin S; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):3884-92. PubMed ID: 20220053
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic features of Hungarian achromatopsia patients.
    Varsányi B; Wissinger B; Kohl S; Koeppen K; Farkas A
    Mol Vis; 2005 Nov; 11():996-1001. PubMed ID: 16319819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 23(3-4):395-402. PubMed ID: 16961972
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 131(2):149-58. PubMed ID: 26138751
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 19(3):257-9. PubMed ID: 9662398
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 31(7):830-9. PubMed ID: 20506298
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 48(8):3864-71. PubMed ID: 17652762
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 112(12):2115. PubMed ID: 16225923
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Integrity of the cone photoreceptor mosaic in oligocone trichromacy.
    Michaelides M; Rha J; Dees EW; Baraas RC; Wagner-Schuman ML; Mollon JD; Dubis AM; Andersen MK; Rosenberg T; Larsen M; Moore AT; Carroll J
    Invest Ophthalmol Vis Sci; 2011 Jul; 52(7):4757-64. PubMed ID: 21436275
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 32(7):1411-9. PubMed ID: 22466470
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
    Rosenberg T; Baumann B; Kohl S; Zrenner E; Jorgensen AL; Wissinger B
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4256-62. PubMed ID: 15557429
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 51(11):5952-7. PubMed ID: 20574029
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.