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Page 1
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Ahmed ZM, et al. Among authors: masmoudi s. Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953341 Free PMC article.
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus.
Belguith H, Aifa-Hmani M, Dhouib H, Said MB, Mosrati MA, Lahmar I, Moalla J, Charfeddine I, Driss N, Arab SB, Ghorbel A, Ayadi H, Masmoudi S. Belguith H, et al. Among authors: masmoudi s. Genet Test Mol Biomarkers. 2009 Feb;13(1):147-51. doi: 10.1089/gtmb.2008.0077. Genet Test Mol Biomarkers. 2009. PMID: 19309289
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S. Ben Saïd M, et al. Among authors: masmoudi s. Genet Test Mol Biomarkers. 2010 Jun;14(3):307-11. doi: 10.1089/gtmb.2009.0174. Genet Test Mol Biomarkers. 2010. PMID: 20373850 Free PMC article.
Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.
Khalfallah A, Schrauwen I, Mnejja M, HadjKacem H, Dhouib L, Mosrati MA, Hakim B, Lahmar I, Charfeddine I, Driss N, Ayadi H, Ghorbel A, Van Camp G, Masmoudi S. Khalfallah A, et al. Among authors: masmoudi s. Ann Hum Genet. 2011 Sep;75(5):598-604. doi: 10.1111/j.1469-1809.2011.00665.x. Epub 2011 Jul 21. Ann Hum Genet. 2011. PMID: 21777208
167 results