Masmoudi S - Search Results

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: masmoudi s. 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.

2

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H. Masmoudi S, et al. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

3

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Tlili A, et al. Among authors: masmoudi s. Hum Mutat. 2005 May;25(5):503. doi: 10.1002/humu.9333. Hum Mutat. 2005. PMID: 15841483

4

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: masmoudi s. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

5

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S. Tlili A, et al. Among authors: masmoudi s. Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7. Audiol Neurootol. 2008. PMID: 18259073

6

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: masmoudi s. Biochem Biophys Res Commun. 2008 May 9;369(3):849-52. doi: 10.1016/j.bbrc.2008.02.107. Epub 2008 Mar 4. Biochem Biophys Res Commun. 2008. PMID: 18325329

7

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: masmoudi s. 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

8

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

Mkaouar-Rebai E, Fendri-Kriaa N, Louhichi N, Tlili A, Triki C, Ghorbel A, Masmoudi S, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: masmoudi s. Biosci Rep. 2010 Dec;30(6):405-11. doi: 10.1042/BSR20090120. Biosci Rep. 2010. PMID: 20055758

9

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H. Tlili A, et al. Among authors: masmoudi s. Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18. Hum Hered. 2005. PMID: 16244493

10

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

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