BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

721 related articles for article (PubMed ID: 15665353)

  • 1. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M; Holder GE; Hunt DM; Fitzke FW; Bird AC; Moore AT
    Br J Ophthalmol; 2005 Feb; 89(2):198-206. PubMed ID: 15665353
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
    Michaelides M; Holder GE; Webster AR; Hunt DM; Bird AC; Fitzke FW; Mollon JD; Moore AT
    Br J Ophthalmol; 2005 Mar; 89(3):332-9. PubMed ID: 15722315
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A; Golovleva I; Köhn L; Sandgren O
    Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
    Smith M; Whittock N; Searle A; Croft M; Brewer C; Cole M
    Eye (Lond); 2007 Sep; 21(9):1220-5. PubMed ID: 17041576
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system.
    Kondo M; Miyake Y; Kondo N; Ueno S; Takakuwa H; Terasaki H
    Ophthalmology; 2004 Apr; 111(4):732-9. PubMed ID: 15051206
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
    Michaelides M; Gaillard MC; Escher P; Tiab L; Bedell M; Borruat FX; Barthelmes D; Carmona R; Zhang K; White E; McClements M; Robson AG; Holder GE; Bradshaw K; Hunt DM; Webster AR; Moore AT; Schorderet DF; Munier FL
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4771-80. PubMed ID: 20393116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA; Estrada-Cuzcano A; Banin E; Rotenstreich Y; Hipp S; Kohl S; Hoyng CB; den Hollander AI; Collin RW; Klevering BJ
    Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4683-90. PubMed ID: 23788369
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
    Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
    Jacobson SG; Cideciyan AV; Huang Y; Hanna DB; Freund CL; Affatigato LM; Carr RE; Zack DJ; Stone EM; McInnes RR
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
    [TBL] [Abstract][Full Text] [Related]  

  • 12. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
    Robson AG; Webster AR; Michaelides M; Downes SM; Cowing JA; Hunt DM; Moore AT; Holder GE
    Retina; 2010 Jan; 30(1):51-62. PubMed ID: 19952985
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
    Robson AG; Michaelides M; Luong VA; Holder GE; Bird AC; Webster AR; Moore AT; Fitzke FW
    Br J Ophthalmol; 2008 Jan; 92(1):95-102. PubMed ID: 17962389
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
    Downes SM; Holder GE; Fitzke FW; Payne AM; Warren MJ; Bhattacharya SS; Bird AC
    Arch Ophthalmol; 2001 Jan; 119(1):96-105. PubMed ID: 11146732
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
    Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
    Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
    Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
    Hugosson T; Friedman JS; Ponjavic V; Abrahamson M; Swaroop A; Andréasson S
    Arch Ophthalmol; 2010 Jun; 128(6):772-8. PubMed ID: 20547956
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT
    Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3927-38. PubMed ID: 22570351
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 37.