BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

346 related articles for article (PubMed ID: 30027431)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
    Siemiatkowska AM; Astuti GD; Arimadyo K; den Hollander AI; Faradz SM; Cremers FP; Collin RW
    Mol Vis; 2012; 18():2411-9. PubMed ID: 23077400
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
    Kuniyoshi K; Sakuramoto H; Yoshitake K; Ikeo K; Furuno M; Tsunoda K; Kusaka S; Shimomura Y; Iwata T
    Doc Ophthalmol; 2015 Aug; 131(1):71-9. PubMed ID: 25827439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical heterogeneity in retinitis pigmentosa caused by variants in
    Al-Bdour M; Pauleck S; Dardas Z; Barham R; Ali D; Amr S; Mustafa L; Abu-Ameerh M; Maswadi R; Azab B; Awidi A
    Mol Vis; 2020; 26():445-458. PubMed ID: 32587456
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
    Lin Y; Xu CL; Velez G; Yang J; Tanaka AJ; Breazzano MP; Mahajan VB; Sparrow JR; Tsang SH
    Doc Ophthalmol; 2020 Feb; 140(1):67-75. PubMed ID: 31538292
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Jpn J Ophthalmol; 2018 Mar; 62(2):186-193. PubMed ID: 29305715
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.
    Lu L; Wang X; Lo D; Weng J; Liu X; Yang J; He F; Wang Y; Liu X
    Oncotarget; 2016 Nov; 7(48):79797-79804. PubMed ID: 27806333
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
    Georgiou M; Grewal PS; Narayan A; Alser M; Ali N; Fujinami K; Webster AR; Michaelides M
    Am J Ophthalmol; 2021 Jan; 221():299-310. PubMed ID: 32795431
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
    Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
    Wang J; Xu D; Zhu T; Zhou Y; Chen X; Wang F; Zhang J; Tian H; Gao F; Zhang J; Jin C; Xu J; Lu L; Liu Q; Xu GT
    Exp Eye Res; 2019 Nov; 188():107726. PubMed ID: 31319082
    [TBL] [Abstract][Full Text] [Related]  

  • 17. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
    Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
    BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
    Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.