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Journal Abstract Search

556 related items for PubMed ID: 21686329

  • 1. 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; 17():1537-52. PubMed ID: 21686329
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  • 2. 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; 14():2067-75. PubMed ID: 19023448
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  • 4. 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; 125(2):219-24. PubMed ID: 17296898
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  • 7. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
    Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.
    Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
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  • 9. 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; 32(10):1608-1614. PubMed ID: 29899460
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  • 10. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
    McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.
    J Med Genet; 2010 Jul; 47(7):499-506. PubMed ID: 20507924
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  • 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; 105(5):694-703. PubMed ID: 32675063
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  • 13. 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
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  • 15. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
    Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.
    Hum Mutat; 2008 Mar 04; 29(3):451. PubMed ID: 18273898
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  • 16. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C.
    Ophthalmic Genet; 2000 Jun 04; 21(2):123-8. PubMed ID: 10916187
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  • 17. 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 04; 19():2187-95. PubMed ID: 24227914
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  • 20. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
    Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2014 Oct 16; 55(11):7369-75. PubMed ID: 25324289
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