Ayadi H - Search Results

1

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: ayadi h. Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159. Hum Mutat. 2001. PMID: 11462234

2

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: ayadi h. Am J Med Genet. 2000 Jan 3;90(1):38-44. Am J Med Genet. 2000. PMID: 10602116

3

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: ayadi h. Clin Genet. 2004 Oct;66(4):358-64. doi: 10.1111/j.1399-0004.2004.00311.x. Clin Genet. 2004. PMID: 15355440

4

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: ayadi h. Arch Inst Pasteur Tunis. 1997 Jan-Apr;74(1-2):5-8. Arch Inst Pasteur Tunis. 1997. PMID: 15945170

5

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: ayadi h. 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

6

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C. Guilford P, et al. Among authors: ayadi h. Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989. Hum Mol Genet. 1994. PMID: 7951250

7

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, Chaabouni M, Petit C, Ayadi H. Hmani M, et al. Among authors: ayadi h. Eur J Hum Genet. 1999 Apr;7(3):363-7. doi: 10.1038/sj.ejhg.5200307. Eur J Hum Genet. 1999. PMID: 10234513

8

Two missense mutations in SLC26A4 gene: a molecular and functional study.

Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H. Rebeh IB, et al. Among authors: ayadi h. Clin Genet. 2010 Jul;78(1):74-80. doi: 10.1111/j.1399-0004.2009.01360.x. Epub 2009 Dec 2. Clin Genet. 2010. PMID: 20128824

9

Pendred syndrome in Tunisia.

Charfeddine I, Mnejja M, Hammami B, Chakroun A, Masmoudi S, Ayadi H, Ghorbel A. Charfeddine I, et al. Among authors: ayadi h. Eur Ann Otorhinolaryngol Head Neck Dis. 2010 Mar;127(1):7-10. doi: 10.1016/j.anorl.2010.02.002. Epub 2010 Mar 24. Eur Ann Otorhinolaryngol Head Neck Dis. 2010. PMID: 20822748 Free article.

10

Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.

Masmoudi S, Elgaied-Boulila A, Kassab I, Ben Arab S, Blanchard S, Bouzouita JE, Drira M, Kassab A, Hachicha S, Petit C, Ayadi H. Masmoudi S, et al. Among authors: ayadi h. J Med Genet. 2000 Nov;37(11):E39. doi: 10.1136/jmg.37.11.e39. J Med Genet. 2000. PMID: 11073548 Free PMC article. No abstract available.

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