BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 32014858)

  • 21. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
    Sharon D; Ben-Yosef T; Goldenberg-Cohen N; Pras E; Gradstein L; Soudry S; Mezer E; Zur D; Abbasi AH; Zeitz C; Cremers FPM; Khan MI; Levy J; Rotenstreich Y; Birk OS; Ehrenberg M; Leibu R; Newman H; Shomron N; Banin E; Perlman I
    Hum Mutat; 2020 Jan; 41(1):140-149. PubMed ID: 31456290
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
    Daich Varela M; Moya R; Azevedo Souza Amaral R; Schlottmann PG; Álvarez Mendiara A; Francone A; Guazi Resende R; Capalbo L; Gelvez N; López G; Morales-Acevedo AM; Ossa RH; Arno G; Michaelides M; Tamayo ML; Ferraz Sallum JM
    Ophthalmol Retina; 2024 Feb; 8(2):163-173. PubMed ID: 37714431
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
    Lee SA; Belyaeva OV; Popov IK; Kedishvili NY
    J Biol Chem; 2007 Dec; 282(49):35621-8. PubMed ID: 17925390
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
    Wang J; Wang Y; Li S; Xiao X; Yi Z; Jiang Y; Li X; Jia X; Wang P; Jin C; Sun W; Zhang Q
    Invest Ophthalmol Vis Sci; 2022 Aug; 63(9):24. PubMed ID: 35994252
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
    Suga A; Yoshitake K; Minematsu N; Tsunoda K; Fujinami K; Miyake Y; Kuniyoshi K; Hayashi T; Mizobuchi K; Ueno S; Terasaki H; Kominami T; Nao-I N; Mawatari G; Mizota A; Shinoda K; Kondo M; Kato K; Sekiryu T; Nakamura M; Kusuhara S; Yamamoto H; Yamamoto S; Mochizuki K; Kondo H; Matsushita I; Kameya S; Fukuchi T; Hatase T; Horiguchi M; Shimada Y; Tanikawa A; Yamamoto S; Miura G; Ito N; Murakami A; Fujimaki T; Hotta Y; Tanaka K; Iwata T
    Hum Mutat; 2022 Dec; 43(12):2251-2264. PubMed ID: 36284460
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
    Fahim AT; Thompson DA
    Adv Exp Med Biol; 2019; 1185():209-213. PubMed ID: 31884613
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
    Jin J; Liang L; Jin K; Zhang HJ; Liu R; Shen Y
    Brain Topogr; 2022 Jul; 35(4):525-535. PubMed ID: 35006499
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
    Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S
    Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
    Kuniyoshi K; Sakuramoto H; Yoshitake K; Abe K; Ikeo K; Furuno M; Tsunoda K; Kusaka S; Shimomura Y; Iwata T
    Doc Ophthalmol; 2014 Jun; 128(3):219-28. PubMed ID: 24752437
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Development of a Gene Therapy Vector for
    Feathers KL; Jia L; Perera ND; Chen A; Presswalla FK; Khan NW; Fahim AT; Smith AJ; Ali RR; Thompson DA
    Hum Gene Ther; 2019 Nov; 30(11):1325-1335. PubMed ID: 31237438
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
    Tracewska AM; Kocyła-Karczmarewicz B; Rafalska A; Murawska J; Jakubaszko-Jabłónska J; Rydzanicz M; Stawiński P; Ciara E; Lipska-Ziętkiewicz BS; Khan MI; Cremers FPM; Płoski R; Chrzanowska KH
    Mol Vis; 2021; 27():457-465. PubMed ID: 34321860
    [TBL] [Abstract][Full Text] [Related]  

  • 35. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
    Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Schwartz SB; Windsor EA; Roman AJ; Heon E; Stone EM; Thompson DA
    Invest Ophthalmol Vis Sci; 2007 Jan; 48(1):332-8. PubMed ID: 17197551
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
    Li Y; Pan Q; Gu YS
    J Zhejiang Univ Sci B; 2017 May; 18(5):421-429. PubMed ID: 28471114
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
    Pierrache LHM; Messchaert M; Thiadens AAHJ; Haer-Wigman L; de Jong-Hesse Y; van Zelst-Stams WAG; Collin RWJ; Klaver CCW; van den Born LI
    Invest Ophthalmol Vis Sci; 2019 May; 60(6):2049-2063. PubMed ID: 31074760
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC;
    JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.
    Garafalo AV; Sheplock R; Sumaroka A; Roman AJ; Cideciyan AV; Jacobson SG
    EBioMedicine; 2021 Jan; 63():103200. PubMed ID: 33421946
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.