Drira M - 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: drira m. 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

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: drira m. Hum Mutat. 2005 May;25(5):503. doi: 10.1002/humu.9333. Hum Mutat. 2005. PMID: 15841483

3

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. Among authors: drira m. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

4

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: drira m. Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18. Hum Hered. 2005. PMID: 16244493

5

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

Masmoudi S, Charfedine I, Rebeh IB, Rebai A, Tlili A, Ghorbel AM, Belguith H, Petit C, Drira M, Ayadi H. Masmoudi S, et al. Among authors: drira m. Clin Genet. 2004 Oct;66(4):358-64. doi: 10.1111/j.1399-0004.2004.00311.x. Clin Genet. 2004. PMID: 15355440

6

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. Boulila-Elgaïed A, et al. Among authors: drira m. Arch Inst Pasteur Tunis. 1997 Jan-Apr;74(1-2):5-8. Arch Inst Pasteur Tunis. 1997. PMID: 15945170

7

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H. Tlili A, et al. Among authors: drira m. Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. doi: 10.1111/j.1469-1809.2006.00337.x. Epub 2006 Dec 12. Ann Hum Genet. 2007. PMID: 17166180

8

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M. Masmoudi S, et al. Among authors: drira m. Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159. Hum Mutat. 2001. PMID: 11462234

9

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H. Masmoudi S, et al. Among authors: drira m. Am J Med Genet. 2000 Jan 3;90(1):38-44. Am J Med Genet. 2000. PMID: 10602116

10

Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.

Belguith H, Hajji S, Salem N, Charfeddine I, Lahmar I, Amor MB, Ouldim K, Chouery E, Driss N, Drira M, Mégarbané A, Rebai A, Sefiani A, Masmoudi S, Ayadi H. Belguith H, et al. Among authors: drira m. Clin Genet. 2005 Aug;68(2):188-9. doi: 10.1111/j.1399-0004.2005.00474.x. Clin Genet. 2005. PMID: 15996220 No abstract available.

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