BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 21552474)

  • 21. 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]  

  • 22. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
    Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM
    Hum Mol Genet; 1998 Jul; 7(7):1179-84. PubMed ID: 9618177
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
    Collery RF; Cederlund ML; Kennedy BN
    Exp Eye Res; 2013 Mar; 108():120-8. PubMed ID: 23328348
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
    Kamenarova K; Corton M; García-Sandoval B; Fernández-San Jose P; Panchev V; Avila-Fernández A; López-Molina MI; Chakarova C; Ayuso C; Bhattacharya SS
    Biomed Res Int; 2013; 2013():517570. PubMed ID: 24024198
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
    Zhao X; Ren Y; Zhang X; Chen C; Dong B; Li Y
    Mol Vis; 2013; 19():1039-46. PubMed ID: 23734073
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.
    Ito S; Nakamura M; Ohnishi Y; Miyake Y
    Jpn J Ophthalmol; 2004; 48(3):228-35. PubMed ID: 15175914
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
    Jacobson SG; Cideciyan AV; Peshenko IV; Sumaroka A; Olshevskaya EV; Cao L; Schwartz SB; Roman AJ; Olivares MB; Sadigh S; Yau KW; Heon E; Stone EM; Dizhoor AM
    Hum Mol Genet; 2013 Jan; 22(1):168-83. PubMed ID: 23035049
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV
    Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
    Payne AM; Downes SM; Bessant DA; Taylor R; Holder GE; Warren MJ; Bird AC; Bhattacharya SS
    Hum Mol Genet; 1998 Feb; 7(2):273-7. PubMed ID: 9425234
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.
    Yoshida S; Yamaji Y; Yoshida A; Kuwahara R; Yamamoto K; Kubata T; Ishibashi T
    Mol Vis; 2006 Dec; 12():1558-64. PubMed ID: 17200655
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
    Gradstein L; Zolotushko J; Sergeev YV; Lavy I; Narkis G; Perez Y; Guigui S; Sharon D; Banin E; Walter E; Lifshitz T; Birk OS
    BMC Med Genet; 2016 Jul; 17(1):52. PubMed ID: 27475985
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
    Gregory-Evans K; Kelsell RE; Gregory-Evans CY; Downes SM; Fitzke FW; Holder GE; Simunovic M; Mollon JD; Taylor R; Hunt DM; Bird AC; Moore AT
    Ophthalmology; 2000 Jan; 107(1):55-61. PubMed ID: 10647719
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with
    Liu X; Fujinami K; Kuniyoshi K; Kondo M; Ueno S; Hayashi T; Mochizuki K; Kameya S; Yang L; Fujinami-Yokokawa Y; Arno G; Pontikos N; Sakuramoto H; Kominami T; Terasaki H; Katagiri S; Mizobuchi K; Nakamura N; Yoshitake K; Miyake Y; Li S; Kurihara T; Tsubota K; Iwata T; Tsunoda K;
    Transl Vis Sci Technol; 2020 May; 9(6):2. PubMed ID: 32821499
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
    Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.
    Salehi Chaleshtori AR; Garshasbi M; Salehi A; Noruzinia M
    Eur J Med Genet; 2020 Mar; 63(3):103750. PubMed ID: 31470097
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
    Payne AM; Morris AG; Downes SM; Johnson S; Bird AC; Moore AT; Bhattacharya SS; Hunt DM
    J Med Genet; 2001 Sep; 38(9):611-4. PubMed ID: 11565546
    [No Abstract]   [Full Text] [Related]  

  • 40. A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
    Xiao X; Guo X; Jia X; Li S; Wang P; Zhang Q
    Mol Vis; 2011; 17():3271-8. PubMed ID: 22194653
    [TBL] [Abstract][Full Text] [Related]  

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