BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 30153090)

  • 1. Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
    Mucciolo DP; Sodi A; Passerini I; Murro V; Cipollini F; Borg I; Pelo E; Contini E; Virgili G; Rizzo S
    Ophthalmic Genet; 2018 Oct; 39(5):589-602. PubMed ID: 30153090
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM; O'Driscoll CA; Kaye RS; Barragan I; El-Ashry MF; Borrego S; Antiñolo G; Pang CP; Webster AR; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4266-72. PubMed ID: 20237254
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D; Littink KW; Ben-Yosef T; Strom TM; Chowers I; Collin RW; den Hollander AI; van den Born LI; Zonneveld MN; Merin S; Banin E; Cremers FP; Sharon D
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4387-94. PubMed ID: 20375346
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
    Sengillo JD; Lee W; Nagasaki T; Schuerch K; Yannuzzi LA; Freund KB; Sparrow JR; Allikmets R; Tsang SH
    Am J Ophthalmol; 2018 Jun; 190():99-112. PubMed ID: 29550188
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
    Hosono K; Ishigami C; Takahashi M; Park DH; Hirami Y; Nakanishi H; Ueno S; Yokoi T; Hikoya A; Fujita T; Zhao Y; Nishina S; Shin JP; Kim IT; Yamamoto S; Azuma N; Terasaki H; Sato M; Kondo M; Minoshima S; Hotta Y
    PLoS One; 2012; 7(2):e31036. PubMed ID: 22363543
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
    Huang Y; Zhang J; Li C; Yang G; Liu M; Wang QK; Tang Z
    BMC Med Genet; 2010 Aug; 11():121. PubMed ID: 20696082
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
    Khan MI; Collin RW; Arimadyo K; Micheal S; Azam M; Qureshi N; Faradz SM; den Hollander AI; Qamar R; Cremers FP
    Mol Vis; 2010 Dec; 16():2753-9. PubMed ID: 21179430
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.
    Soares RM; Carvalho AL; Simão S; Soares CA; Raimundo M; Alves CH; Ambrósio AF; Murta J; Saraiva J; Silva R; Marques JP
    Ophthalmol Retina; 2023 Jul; 7(7):628-638. PubMed ID: 36764454
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation.
    Seko Y; Iwanami M; Miyamoto-Matsui K; Takita S; Aoi N; Umezawa A; Kato S
    Stem Cell Res Ther; 2018 Oct; 9(1):279. PubMed ID: 30359287
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.
    Wei C; Xiao T; Cheng J; Fu J; Zhou Q; Yang L; Lv H; Fu J
    Biosci Rep; 2020 Jun; 40(6):. PubMed ID: 32436957
    [TBL] [Abstract][Full Text] [Related]  

  • 13. EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
    Messchaert M; Haer-Wigman L; Khan MI; Cremers FPM; Collin RWJ
    Hum Mutat; 2018 Feb; 39(2):177-186. PubMed ID: 29159838
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
    Barragán I; Borrego S; Pieras JI; González-del Pozo M; Santoyo J; Ayuso C; Baiget M; Millan JM; Mena M; Abd El-Aziz MM; Audo I; Zeitz C; Littink KW; Dopazo J; Bhattacharya SS; Antiñolo G
    Hum Mutat; 2010 Nov; 31(11):E1772-800. PubMed ID: 21069908
    [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. 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]  

  • 17. Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
    Gu S; Tian Y; Chen X; Zhao C
    Mol Vis; 2016; 22():646-57. PubMed ID: 27375351
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole exome sequencing reveals novel
    Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Copy-number variations in EYS: a significant event in the appearance of arRP.
    Pieras JI; Barragán I; Borrego S; Audo I; González-Del Pozo M; Bernal S; Baiget M; Zeitz C; Bhattacharya SS; Antiñolo G
    Invest Ophthalmol Vis Sci; 2011 Jul; 52(8):5625-31. PubMed ID: 21519034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.