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Page 1
Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: charfeddine i. Biochem Biophys Res Commun. 2006 Feb 24;340(4):1251-8. doi: 10.1016/j.bbrc.2005.12.123. Epub 2006 Jan 5. Biochem Biophys Res Commun. 2006. PMID: 16406239 Clinical Trial.
Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S. Belguith H, et al. Among authors: charfeddine i. Biochem Biophys Res Commun. 2009 Jul 17;385(1):1-5. doi: 10.1016/j.bbrc.2009.02.125. Epub 2009 Feb 28. Biochem Biophys Res Commun. 2009. PMID: 19254696
A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family.
Ben Saïd M, Ayedi L, Mnejja M, Hakim B, Khalfallah A, Charfeddine I, Khifagi C, Turki K, Ayadi H, Benzina Z, Ghorbel A, Castillo ID, Masmoudi S, Aifa MH. Ben Saïd M, et al. Among authors: charfeddine i. Eur J Med Genet. 2011 Nov-Dec;54(6):e535-41. doi: 10.1016/j.ejmg.2011.06.008. Epub 2011 Jul 13. Eur J Med Genet. 2011. PMID: 21802533
SLC26A4 variations among Graves' hyper-functioning thyroid gland.
Hadj-Kacem H, Kallel R, Belguith-Maalej S, Mnif M, Charfeddine I, Ghorbel A, Abid M, Ayadi H, Masmoudi S. Hadj-Kacem H, et al. Among authors: charfeddine i. Dis Markers. 2010;29(2):63-9. doi: 10.3233/DMA-2010-0727. Dis Markers. 2010. PMID: 21045265 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: charfeddine i. Genet Test Mol Biomarkers. 2009 Feb;13(1):147-51. doi: 10.1089/gtmb.2008.0077. Genet Test Mol Biomarkers. 2009. PMID: 19309289
109 results