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Journal Abstract Search

205 related items for PubMed ID: 28731162

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  • 3. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
    Liu F, Li P, Liu Y, Li W, Wong F, Du R, Wang L, Li C, Jiang F, Tang Z, Liu M.
    Mol Vis; 2013; 19():695-701. PubMed ID: 23559863
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  • 4. A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
    Ouarhache M, Kettani O, Fizazi KE, Bouguenouch L, Ouldim K.
    Mol Biol Rep; 2024 May 25; 51(1):683. PubMed ID: 38796585
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  • 6. Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
    Gao X, Wang GJ, Yuan YY, Xin F, Han MY, Lu JQ, Zhao H, Yu F, Xu JC, Zhang MG, Dong J, Lin X, Dai P.
    PLoS One; 2014 May 25; 9(7):e103415. PubMed ID: 25080338
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  • 10. Novel mutations in the USH1C gene in Usher syndrome patients.
    Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.
    Mol Vis; 2010 Dec 31; 16():2948-54. PubMed ID: 21203349
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  • 12. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
    Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S.
    Mol Vis; 2016 Dec 31; 22():827-35. PubMed ID: 27440999
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  • 13. Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.
    Ramzan K, Al-Owain M, Huma R, Al-Hazzaa SAF, Al-Ageel S, Imtiaz F, Al-Sayed M.
    Int J Pediatr Otorhinolaryngol; 2018 May 31; 108():17-21. PubMed ID: 29605349
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  • 15. Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report.
    Zhang Y, Guo X, Hao L, Tian M, Ma Y, Tang Y.
    J Int Med Res; 2023 Dec 31; 51(12):3000605231218924. PubMed ID: 38141656
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  • 16. Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
    Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C.
    Acta Ophthalmol; 2021 Dec 31; 99(8):922-930. PubMed ID: 33576163
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  • 17. New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.
    Lin Q, Yang D, Shen Z, Zhou X.
    Int Ophthalmol; 2023 Jun 31; 43(6):2091-2099. PubMed ID: 36484953
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  • 18. A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.
    Cao W, Kuang L, Gan R, Huang T, Yan X.
    Exp Eye Res; 2024 Oct 31; 247():110047. PubMed ID: 39151776
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  • 20. In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier.
    Kallman JC, Phillips JO, Bramhall NF, Kelly JP, Street VA.
    Otol Neurotol; 2008 Sep 31; 29(6):860-7. PubMed ID: 18667942
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