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Journal Abstract Search

192 related items for PubMed ID: 20132242

  • 21. Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
    Li L, Yuan H, Wang H, Guan J, Lan L, Wang D, Zong L, Liu Q, Han B, Huang D, Wang Q.
    Acta Otolaryngol; 2018 May; 138(5):463-470. PubMed ID: 29400105
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  • 25. A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.
    Schwander M, Lopes V, Sczaniecka A, Gibbs D, Lillo C, Delano D, Tarantino LM, Wiltshire T, Williams DS, Müller U.
    J Neurosci; 2009 Dec 16; 29(50):15810-8. PubMed ID: 20016096
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  • 27. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
    Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L.
    Am J Med Genet A; 2008 Apr 15; 146A(8):1017-25. PubMed ID: 18348273
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  • 29. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
    Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A.
    Hum Mutat; 1999 Apr 15; 13(2):133-40. PubMed ID: 10094549
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  • 33. Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.
    Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK.
    Genes Genomics; 2023 Feb 15; 45(2):225-230. PubMed ID: 36630074
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  • 34. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
    Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.
    Am J Hum Genet; 1996 Nov 15; 59(5):1074-83. PubMed ID: 8900236
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  • 35. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
    Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, Liu W, Kang X, Sheng X, Zhao C.
    PLoS One; 2014 Nov 15; 9(5):e97808. PubMed ID: 24831256
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  • 37. Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families.
    Boulila-Elgaïed A, Masmoudi S, Drira M, Gouia M, Chaib H, Petit C, Ayadi H.
    Arch Inst Pasteur Tunis; 1997 Nov 15; 74(1-2):5-8. PubMed ID: 15945170
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  • 39. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
    Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.
    Eur J Med Genet; 2009 Nov 15; 52(4):174-9. PubMed ID: 19375528
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  • 40. A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.
    Xia H, Hu P, Yuan L, Xiong W, Xu H, Yi J, Yang Z, Deng X, Guo Y, Deng H.
    Mol Med Rep; 2017 Oct 15; 16(4):4241-4246. PubMed ID: 28731162
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