BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

549 related articles for article (PubMed ID: 30913292)

  • 1. 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]  

  • 2. Biallelic
    Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
    Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ; Lai TY; Tam PO; Chiang SW; Zhang X; Lam S; Lai RY; Lam DS; Pang CP
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    D'Esposito F; Randazzo V; Vega MI; Esposito G; Maltese PE; Torregrossa S; Scibetta P; Listì F; Gagliano C; Scalia L; Pioppo A; Marino A; Piergentili M; Malvone E; Fioretti T; Vitrano A; Piccione M; Avitabile T; Salvatore F; Bertelli M; Costagliola C; Cordeiro MF; Maggio A; D'Alcamo E
    Medicina (Kaunas); 2024 Feb; 60(2):. PubMed ID: 38399542
    [No Abstract]   [Full Text] [Related]  

  • 6. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I; Mohand-Saïd S; Dhaenens CM; Germain A; Orhan E; Antonio A; Hamel C; Sahel JA; Bhattacharya SS; Zeitz C
    Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the retinal phenotype of
    Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E
    Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
    Chassine T; Bocquet B; Daien V; Avila-Fernandez A; Ayuso C; Collin RW; Corton M; Hejtmancik JF; van den Born LI; Klevering BJ; Riazuddin SA; Sendon N; Lacroux A; Meunier I; Hamel CP
    Br J Ophthalmol; 2015 Oct; 99(10):1360-5. PubMed ID: 25883087
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL; Grimsby JL; Adams SM; McGee TL; Sweklo E; Pierce EA; Sandberg MA; Dryja TP
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG; Cideciyan AV; Iannaccone A; Weleber RG; Fishman GA; Maguire AM; Affatigato LM; Bennett J; Pierce EA; Danciger M; Farber DB; Stone EM
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inherited retinal dystrophies in a Kuwaiti tribe.
    Pandova MG; Abduljalil T; Elshafey AE; Abdelmoaty SMA; Albastawisy HI; Bastaki LA; Alsaleh H; Kozak I; AlMerjan JI
    Ophthalmic Genet; 2022 Aug; 43(4):438-445. PubMed ID: 35272565
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
    Katagiri S; Akahori M; Hayashi T; Yoshitake K; Gekka T; Ikeo K; Tsuneoka H; Iwata T
    Doc Ophthalmol; 2014 Jun; 128(3):211-7. PubMed ID: 24652164
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
    Riveiro-Alvarez R; Lopez-Martinez MA; Zernant J; Aguirre-Lamban J; Cantalapiedra D; Avila-Fernandez A; Gimenez A; Lopez-Molina MI; Garcia-Sandoval B; Blanco-Kelly F; Corton M; Tatu S; Fernandez-San Jose P; Trujillo-Tiebas MJ; Ramos C; Allikmets R; Ayuso C
    Ophthalmology; 2013 Nov; 120(11):2332-7. PubMed ID: 23755871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A; Corton M; Nishiguchi KM; Muñoz-Sanz N; Benavides-Mori B; Blanco-Kelly F; Riveiro-Alvarez R; Garcia-Sandoval B; Rivolta C; Ayuso C
    Ophthalmology; 2012 Dec; 119(12):2616-21. PubMed ID: 22917891
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19.
    Nguyen XT; Talib M; van Schooneveld MJ; Brinks J; Ten Brink J; Florijn RJ; Wijnholds J; Verdijk RM; Bergen AA; Boon CJF
    Int J Mol Sci; 2020 Jan; 21(3):. PubMed ID: 32012938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
    Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 28.