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Journal Abstract Search

252 related items for PubMed ID: 32436957

  • 1. 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 26; 40(6):. PubMed ID: 32436957
    [Abstract] [Full Text] [Related]

  • 2. Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
    Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N, Kato S.
    Mol Vis; 2019 Jun 26; 25():766-779. PubMed ID: 31814702
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  • 3. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019 Jun 26; 25():35-46. PubMed ID: 30804660
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  • 4. 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 10; 11():121. PubMed ID: 20696082
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  • 5. Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
    Gu S, Tian Y, Chen X, Zhao C.
    Mol Vis; 2016 Aug 10; 22():646-57. PubMed ID: 27375351
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  • 6. 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 29; 7(48):79797-79804. PubMed ID: 27806333
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  • 9. 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 20; 6():19432. PubMed ID: 26787102
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  • 11. A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.
    Yang H, Zhang YJ, Zhu L, Zheng WY, Shi MY, Zhao WR, Zhao HC.
    BMC Ophthalmol; 2024 Aug 26; 24(1):373. PubMed ID: 39187782
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  • 12. 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 25; 9(1):279. PubMed ID: 30359287
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  • 13. Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
    Chen X, Liu X, Sheng X, Gao X, Zhang X, Li Z, Li H, Liu Y, Rong W, Zhao K, Zhao C.
    Sci Rep; 2015 Mar 10; 5():8927. PubMed ID: 25753737
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  • 14. "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 10; 35(5):1440-1449. PubMed ID: 32728228
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  • 17. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
    Di Iorio E, Adamo GG, Sorrentino U, De Nadai K, Barbaro V, Mura M, Pellegrini M, Boaretto F, Tavolato M, Suppiej A, Nasini F, Salviati L, Parmeggiani F.
    Sci Rep; 2024 Aug 10; 14(1):18580. PubMed ID: 39127808
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  • 18. A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.
    Dai C, Ren W, Wei Y, Xie C, Duan S, Li Q, Jiang L, Shi Y.
    Genet Test Mol Biomarkers; 2023 Aug 10; 27(8):258-266. PubMed ID: 37643323
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  • 19. Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.
    Sun Y, Li JK, He W, Wang ZS, Bai JY, Xu L, Xing B, Zhang JG, Wang L, Li W, Chen F.
    Mol Genet Genomic Med; 2020 Mar 10; 8(3):e1117. PubMed ID: 31944634
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