Ghorbel AM - Search Results

1

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

2

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S. Bensaïd M, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e565-9. doi: 10.1016/j.ejmg.2011.07.003. Epub 2011 Jul 26. Eur J Med Genet. 2011. PMID: 21816241

3

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.

Ali Mosrati M, Schrauwen I, Ben Saiid M, Aifa-Hmani M, Fransen E, Mneja M, Ghorbel A, Van Camp G, Masmoudi S. Ali Mosrati M, et al. J Hum Genet. 2013 Feb;58(2):98-101. doi: 10.1038/jhg.2012.141. Epub 2012 Dec 13. J Hum Genet. 2013. PMID: 23235334

4

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. Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7. Audiol Neurootol. 2008. PMID: 18259073

5

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. 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.

6

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. 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

7

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X. Ben Said M, et al. Hum Genet. 2016 May;135(5):513-524. doi: 10.1007/s00439-016-1657-7. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023905 Free PMC article.

8

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H. Hmani-Aifa M, et al. Eur J Hum Genet. 2009 Apr;17(4):474-82. doi: 10.1038/ejhg.2008.167. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854872 Free PMC article.

9

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. 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

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. 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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