Benzina Z - Search Results

1

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

2

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

3

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. Eur J Hum Genet. 1999 Apr;7(3):363-7. doi: 10.1038/sj.ejhg.5200307. Eur J Hum Genet. 1999. PMID: 10234513

4

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: benzina z. 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

5

Identification of candidate regions for a novel Usher syndrome type II locus.

Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S. Ben Rebeh I, et al. Among authors: benzina z. Mol Vis. 2008 Sep 19;14:1719-26. Mol Vis. 2008. PMID: 18806881 Free PMC article.

6

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H. Hmani-Aifa M, et al. Among authors: benzina z. Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8. Epub 2009 Jun 14. Hum Genet. 2009. PMID: 19526372

7

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S. Ben Rebeh I, et al. Among authors: benzina z. Mol Vis. 2010 Sep 30;16:1898-906. Mol Vis. 2010. PMID: 21031134 Free PMC article.

8

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. Among authors: benzina z. 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

9

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. Among authors: benzina z. 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

10

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. Among authors: benzina z. 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.

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