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Journal Abstract Search

688 related items for PubMed ID: 30804660

  • 1. 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; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Identification of Novel EYS Mutations by Targeted Sequencing Analysis.
    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 20; 24(11):745-753. PubMed ID: 33058741
    [Abstract] [Full Text] [Related]

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  • 5. Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
    Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S.
    Congenit Anom (Kyoto); 2018 Jan 20; 58(1):10-15. PubMed ID: 28419563
    [Abstract] [Full Text] [Related]

  • 6. Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
    Gu S, Tian Y, Chen X, Zhao C.
    Mol Vis; 2016 Jan 20; 22():646-57. PubMed ID: 27375351
    [Abstract] [Full Text] [Related]

  • 7. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    PLoS One; 2014 Jan 20; 9(9):e108721. PubMed ID: 25268133
    [Abstract] [Full Text] [Related]

  • 8. 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 20; 8(3):e1117. PubMed ID: 31944634
    [Abstract] [Full Text] [Related]

  • 9. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct 20; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 Aug 10; 25():766-779. PubMed ID: 31814702
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 51(8):4266-72. PubMed ID: 20237254
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
    Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J.
    Int J Mol Med; 2016 Jun 10; 37(6):1528-34. PubMed ID: 27082927
    [Abstract] [Full Text] [Related]

  • 15. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
    Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS.
    Am J Med Genet A; 2018 Dec 10; 176(12):2695-2703. PubMed ID: 30513137
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 27(8):258-266. PubMed ID: 37643323
    [Abstract] [Full Text] [Related]

  • 18. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.
    Hum Genet; 2014 Oct 25; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.
    Mol Vis; 2011 Oct 25; 17():3013-24. PubMed ID: 22128245
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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