BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

587 related articles for article (PubMed ID: 25515582)

  • 21. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
    Ito S; Nakamura M; Nuno Y; Ohnishi Y; Nishida T; Miyake Y
    Invest Ophthalmol Vis Sci; 2004 May; 45(5):1480-5. PubMed ID: 15111605
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
    Van Ghelue M; Eriksen HL; Ponjavic V; Fagerheim T; Andréasson S; Forsman-Semb K; Sandgren O; Holmgren G; Tranebjaerg L
    Ophthalmic Genet; 2000 Dec; 21(4):197-209. PubMed ID: 11135490
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.
    Sato S; Peshenko IV; Olshevskaya EV; Kefalov VJ; Dizhoor AM
    J Neurosci; 2018 Mar; 38(12):2990-3000. PubMed ID: 29440533
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
    Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
    Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.
    Takeda Y; Kubota D; Oishi N; Maruyama K; Gocho K; Yamaki K; Igarashi T; Takahashi H; Kameya S
    J Nippon Med Sch; 2020 May; 87(2):92-99. PubMed ID: 32009068
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
    Downes SM; Payne AM; Kelsell RE; Fitzke FW; Holder GE; Hunt DM; Moore AT; Bird AC
    Arch Ophthalmol; 2001 Nov; 119(11):1667-73. PubMed ID: 11709018
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
    Nishiguchi KM; Sokal I; Yang L; Roychowdhury N; Palczewski K; Berson EL; Dryja TP; Baehr W
    Invest Ophthalmol Vis Sci; 2004 Nov; 45(11):3863-70. PubMed ID: 15505030
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
    Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
    Almoguera B; Li J; Fernandez-San Jose P; Liu Y; March M; Pellegrino R; Golhar R; Corton M; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Guo Y; Tian L; Liu X; Guan L; Zhang J; Keating B; Xu X; Hakonarson H; Ayuso C
    PLoS One; 2015; 10(7):e0133624. PubMed ID: 26197217
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.
    Mukherjee R; Robson AG; Holder GE; Stockman A; Egan CA; Moore AT; Webster AR
    Eye (Lond); 2014 Apr; 28(4):481-7. PubMed ID: 24480840
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
    Suga A; Mizota A; Kato M; Kuniyoshi K; Yoshitake K; Sultan W; Yamazaki M; Shimomura Y; Ikeo K; Tsunoda K; Iwata T
    Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4255-63. PubMed ID: 27548899
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
    Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
    Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
    Rodilla C; Martín-Merida I; Blanco-Kelly F; Trujillo-Tiebas MJ; Avila-Fernandez A; Riveiro-Alvarez R; Del Pozo-Valero M; Perea-Romero I; Swafiri ST; Zurita O; Villaverde C; López MÁ; Romero R; Iancu IF; Núñez-Moreno G; Jiménez-Rolando B; Martin-Gutierrez MP; Carreño E; Minguez P; García-Sandoval B; Ayuso C; Corton M
    Am J Ophthalmol; 2023 Oct; 254():87-103. PubMed ID: 37327959
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39.
    Peshenko IV; Olshevskaya EV; Dizhoor AM
    J Biol Chem; 2020 Dec; 295(52):18301-18315. PubMed ID: 33109612
    [TBL] [Abstract][Full Text] [Related]  

  • 40. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
    Small KW; Silva-Garcia R; Udar N; Nguyen EV; Heckenlively JR
    Arch Ophthalmol; 2008 Mar; 126(3):397-403. PubMed ID: 18332321
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 30.