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222 related items for PubMed ID: 30948794

  • 1. 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]

  • 2. 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]

  • 3. 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 31; 105(5):694-703. PubMed ID: 32675063
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.
    Mol Vis; 2011 Mar 17; 17():1537-52. PubMed ID: 21686329
    [Abstract] [Full Text] [Related]

  • 6. 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 17; 32(10):1608-1614. PubMed ID: 29899460
    [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 17; 99(4):e447-e460. PubMed ID: 33124170
    [Abstract] [Full Text] [Related]

  • 8. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
    Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.
    Mol Vis; 2008 Jun 17; 14():2067-75. PubMed ID: 19023448
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 17; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 10. Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
    Chen X, Sheng X, Liu X, Li H, Liu Y, Rong W, Ha S, Liu W, Kang X, Zhao K, Zhao C.
    PLoS One; 2014 Jun 17; 9(8):e105439. PubMed ID: 25133613
    [Abstract] [Full Text] [Related]

  • 11. USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
    Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JC.
    Mol Vis; 2023 Jun 17; 29():31-38. PubMed ID: 37287646
    [Abstract] [Full Text] [Related]

  • 12. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
    Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC.
    Ophthalmology; 2016 May 17; 123(5):1151-60. PubMed ID: 26927203
    [Abstract] [Full Text] [Related]

  • 13. Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
    Gao FJ, Wang DD, Chen F, Sun HX, Hu FY, Xu P, Li J, Liu W, Qi YH, Li W, Wang M, Zhang S, Xu GZ, Chang Q, Wu JH.
    Br J Ophthalmol; 2021 Jan 17; 105(1):87-92. PubMed ID: 32188678
    [Abstract] [Full Text] [Related]

  • 14. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
    Kaiserman N, Obolensky A, Banin E, Sharon D.
    Arch Ophthalmol; 2007 Feb 17; 125(2):219-24. PubMed ID: 17296898
    [Abstract] [Full Text] [Related]

  • 15. 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 17; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 16. USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
    Ahmed AN, Tahir R, Khan N, Ahmad M, Dawood M, Basit A, Yasin M, Nowshid M, Marwan M, Sultan K, Saleha S.
    BMC Ophthalmol; 2021 Apr 29; 21(1):191. PubMed ID: 33926394
    [Abstract] [Full Text] [Related]

  • 17. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
    Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y.
    J Hum Genet; 2014 Sep 29; 59(9):521-8. PubMed ID: 25078356
    [Abstract] [Full Text] [Related]

  • 18. Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
    He C, Liu X, Zhong Z, Chen J.
    BMC Ophthalmol; 2020 Feb 24; 20(1):70. PubMed ID: 32093671
    [Abstract] [Full Text] [Related]

  • 19. Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
    Inaba A, Maeda A, Yoshida A, Kawai K, Hirami Y, Kurimoto Y, Kosugi S, Takahashi M.
    Int J Mol Sci; 2020 Oct 22; 21(21):. PubMed ID: 33105608
    [Abstract] [Full Text] [Related]

  • 20. Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
    Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J.
    Mol Med Rep; 2020 Oct 22; 22(4):3464-3472. PubMed ID: 32945453
    [Abstract] [Full Text] [Related]

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