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Journal Abstract Search

209 related items for PubMed ID: 30280194

  • 1. Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing.
    Fu YC, Chen N, Qiu ZL, Liu L, Shen J.
    Mol Med Rep; 2018 Dec; 18(6):5016-5022. PubMed ID: 30280194
    [Abstract] [Full Text] [Related]

  • 2. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X.
    Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 3. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
    Qu LH, Jin X, Long YL, Ren JY, Weng CH, Xu HW, Liu Y, Meng XH, Li SY, Yin ZQ.
    Biosci Rep; 2020 Jan 31; 40(1):. PubMed ID: 31904091
    [Abstract] [Full Text] [Related]

  • 4. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Jan 31; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 5. Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
    Huang L, Mao Y, Yang J, Li Y, Li Y, Yang Z.
    Eye (Lond); 2018 Oct 31; 32(10):1608-1614. PubMed ID: 29899460
    [Abstract] [Full Text] [Related]

  • 6. 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 Oct 31; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 7. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
    Meng X, Liu X, Li Y, Guo T, Yang L.
    Acta Ophthalmol; 2021 Jun 31; 99(4):e447-e460. PubMed ID: 33124170
    [Abstract] [Full Text] [Related]

  • 8. Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
    Ng TK, Tang W, Cao Y, Chen S, Zheng Y, Xiao X, Chen H.
    Sci Rep; 2019 Apr 04; 9(1):5628. PubMed ID: 30948794
    [Abstract] [Full Text] [Related]

  • 9. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
    Shen C, You B, Chen YN, Li Y, Li W, Wei WB.
    Mol Vis; 2022 Apr 04; 28():96-113. PubMed ID: 35814500
    [Abstract] [Full Text] [Related]

  • 10. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.
    Mol Vis; 2017 Apr 04; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 11. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
    Sun Y, Li W, Li JK, Wang ZS, Bai JY, Xu L, Xing B, Yang W, Wang ZW, Wang LS, He W, Chen F.
    Mol Genet Genomic Med; 2020 Apr 04; 8(4):e1184. PubMed ID: 32100970
    [Abstract] [Full Text] [Related]

  • 12. USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
    Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R.
    Br J Ophthalmol; 2021 May 04; 105(5):694-703. PubMed ID: 32675063
    [Abstract] [Full Text] [Related]

  • 13. Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
    González-Del Pozo M, Fernández-Suárez E, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
    J Transl Med; 2020 Feb 12; 18(1):73. PubMed ID: 32050993
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 20; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 16. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
    Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M.
    Mol Vis; 2010 Mar 17; 16():454-61. PubMed ID: 20309401
    [Abstract] [Full Text] [Related]

  • 17. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G.
    Mol Vis; 2021 Mar 17; 27():17-25. PubMed ID: 33633436
    [Abstract] [Full Text] [Related]

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  • 20. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
    Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G.
    J Med Genet; 2021 Aug 17; 58(8):570-578. PubMed ID: 32817297
    [Abstract] [Full Text] [Related]

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