201 related articles for article (PubMed ID: 29159838)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Five major sequence variants and copy number variants in the
Iwanami M; Oishi A; Ogino K; Seko Y; Nishida-Shimizu T; Yoshimura N; Kato S
Mol Vis; 2019; 25():766-779. PubMed ID: 31814702
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A Novel Pair of Compound Heterozygous Mutation of
Dai C; Ren W; Wei Y; Xie C; Duan S; Li Q; Jiang L; Shi Y
Genet Test Mol Biomarkers; 2023 Aug; 27(8):258-266. PubMed ID: 37643323
[No Abstract] [Full Text] [Related]
10. "Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Cundy O; Broadgate S; Halford S; MacLaren RE; Shanks ME; Clouston P; Gilhooley MJ; Downes SM
Eye (Lond); 2021 May; 35(5):1440-1449. PubMed ID: 32728228
[TBL] [Abstract][Full Text] [Related]
11. Identification of Novel
Tian W; Li X; Li Y; Wang L; Yang Y; Sun K; Liu W; Zhou B; Lei B; Zhu X
Genet Test Mol Biomarkers; 2020 Nov; 24(11):745-753. PubMed ID: 33058741
[No 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. 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]
14. Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish.
Messchaert M; Dona M; Broekman S; Peters TA; Corral-Serrano JC; Slijkerman RWN; van Wijk E; Collin RWJ
PLoS One; 2018; 13(7):e0200789. PubMed ID: 30052645
[TBL] [Abstract][Full Text] [Related]
15. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Di Y; Huang L; Sundaresan P; Li S; Kim R; Ballav Saikia B; Qu C; Zhu X; Zhou Y; Jiang Z; Zhang L; Lin Y; Zhang D; Li Y; Zhang H; Yin Y; Lu F; Zhu X; Yang Z
Sci Rep; 2016 Jan; 6():19432. PubMed ID: 26787102
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
Iwanami M; Oshikawa M; Nishida T; Nakadomari S; Kato S
Invest Ophthalmol Vis Sci; 2012 Feb; 53(2):1033-40. PubMed ID: 22302105
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
