Ben Said M - Search Results

1

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Souissi A, Abdelmalek Driss D, Chakchouk I, Ben Said M, Ben Ayed I, Mosrati MA, Elloumi I, Tlili A, Aifa S, Masmoudi S. Souissi A, et al. Among authors: ben said m, ben ayed i. J Biomol Struct Dyn. 2022;40(21):10940-10951. doi: 10.1080/07391102.2021.1953600. Epub 2021 Aug 23. J Biomol Struct Dyn. 2022. PMID: 34423747

2

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.

3

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

4

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

5

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M. Ben Said M, et al. Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):832-6. doi: 10.1016/j.ijporl.2012.02.053. Epub 2012 Mar 18. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22429511

6

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I, Ben Said M, Jbeli F, Benmarzoug R, Loukil S, Smeti I, Chakroun A, Gibriel AA, Ghorbel A, Hadjkacem H, Masmoudi S. Chakchouk I, et al. Among authors: ben said m. J Mol Diagn. 2015 Mar;17(2):155-61. doi: 10.1016/j.jmoldx.2014.11.003. Epub 2015 Jan 2. J Mol Diagn. 2015. PMID: 25560255 Free article.

7

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S. Grati M, et al. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18. Hum Mol Genet. 2015. PMID: 25601850 Free PMC article.

8

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 Free PMC article.

9

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.

10

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S. Chakroun A, et al. Among authors: ben said m. Eur J Med Genet. 2016 Sep;59(9):444-51. doi: 10.1016/j.ejmg.2016.08.004. Epub 2016 Aug 12. Eur J Med Genet. 2016. PMID: 27523285 Free PMC article.

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