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Journal Abstract Search

949 related items for PubMed ID: 24227914

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  • 2. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
    González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    PLoS One; 2014; 9(12):e116176. PubMed ID: 25544989
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  • 3. 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
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  • 4. 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 17; 59(9):521-8. PubMed ID: 25078356
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  • 11. 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
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  • 14. Whole-exome sequencing revealed two novel mutations in Usher syndrome.
    Koparir A, Karatas OF, Atayoglu AT, Yuksel B, Sagiroglu MS, Seven M, Ulucan H, Yuksel A, Ozen M.
    Gene; 2015 Jun 01; 563(2):215-8. PubMed ID: 25834954
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  • 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 01; 22(1):193-200. PubMed ID: 32319668
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  • 16. 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
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  • 17. 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 31; 22(4):3464-3472. PubMed ID: 32945453
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  • 18. Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
    Reurink J, Dockery A, Oziębło D, Farrar GJ, Ołdak M, Ten Brink JB, Bergen AA, Rinne T, Yntema HG, Pennings RJE, van den Born LI, Aben M, Oostrik J, Venselaar H, Plomp AS, Khan MI, van Wijk E, Cremers FPM, Roosing S, Kremer H.
    Int J Mol Sci; 2021 Jun 15; 22(12):. PubMed ID: 34203967
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  • 20. 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 Jun 15; 9(9):e108721. PubMed ID: 25268133
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