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131 related items for PubMed ID: 36314366

  • 1. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
    Jung S, Park YC, Lee D, Kim S, Kim SM, Kim Y, Lee D, Hyun J, Koh I, Lee JY.
    Ophthalmic Genet; 2023 Apr; 44(2):163-170. PubMed ID: 36314366
    [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. 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; 105(5):694-703. PubMed ID: 32675063
    [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 May; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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 Apr 04; 29():31-38. PubMed ID: 37287646
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. 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]

  • 11. 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 17; 18(6):5016-5022. PubMed ID: 30280194
    [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. 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 May 17; 17():1537-52. PubMed ID: 21686329
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.
    Chen C, Sun Q, Gu M, Qian T, Luo D, Liu K, Xu X, Yu S.
    Mol Genet Genomic Med; 2020 Nov 22; 8(11):e1479. PubMed ID: 32893482
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 125(2):219-24. PubMed ID: 17296898
    [Abstract] [Full Text] [Related]

  • 17. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
    Rivolta C, Berson EL, Dryja TP.
    Arch Ophthalmol; 2002 Nov 22; 120(11):1566-71. PubMed ID: 12427073
    [Abstract] [Full Text] [Related]

  • 18. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
    Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY.
    Genes (Basel); 2021 Apr 30; 12(5):. PubMed ID: 33946315
    [Abstract] [Full Text] [Related]

  • 19. Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.
    Jin B, Li J, Yang Q, Tang X, Wang C, Zhao Y, Zheng F, Zhang Y, Ma J, Yan M.
    Gene; 2023 Feb 15; 853():147087. PubMed ID: 36464167
    [Abstract] [Full Text] [Related]

  • 20. Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
    Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJ.
    Ophthalmic Genet; 2023 Apr 15; 44(2):109-118. PubMed ID: 36856324
    [Abstract] [Full Text] [Related]

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