Ayadi H - Search Results

1

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. Louhichi N, et al. Among authors: ayadi h. Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2. Neurogenetics. 2004. PMID: 14652796 Free PMC article.

2

Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy.

Louhichi N, Triki C, Meziou M, Rouis S, Ayadi H, Fakhfakh F. Louhichi N, et al. Among authors: ayadi h. Neurosciences (Riyadh). 2004 Oct;9(4):247-53. Neurosciences (Riyadh). 2004. PMID: 23377242

3

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: ayadi h. 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.

4

An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.

Ben Salah G, Fendri-Kriaa N, Kamoun H, Kallabi F, Mkaouar-Rebai E, Fourati A, Ayadi H, Fakhfakh F. Ben Salah G, et al. Among authors: ayadi h. Mol Biol Rep. 2012 Oct;39(10):9639-47. doi: 10.1007/s11033-012-1829-z. Epub 2012 Jun 28. Mol Biol Rep. 2012. PMID: 22740138

5

Genotyping of Tunisian azoospermic men with Sertoli cell-only and maturation arrest.

Hadjkacem-Loukil L, Hadj-Kacem H, Hadj Salem I, Bahloul A, Fakhfakh F, Ayadi H. Hadjkacem-Loukil L, et al. Among authors: ayadi h. Andrologia. 2011 Jul 6. doi: 10.1111/j.1439-0272.2010.01088.x. Online ahead of print. Andrologia. 2011. PMID: 21729129

6

DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.

Salah GB, Ayadi I, Fendri-Kriaa N, Kallabi F, Mkaouar-Rebai E, Fourati A, Fakhfakh F, Ayadi H, Kamoun H. Salah GB, et al. Among authors: ayadi h, ayadi i. Genet Test Mol Biomarkers. 2012 Oct;16(10):1218-25. doi: 10.1089/gtmb.2012.0035. Genet Test Mol Biomarkers. 2012. PMID: 23057594

7

Analysis of azoospermia factor loci polymorphisms among Tunisian infertile men with varicocele.

Hadjkacem-Loukil L, Hadj Kacem H, Salem IH, Bahloul A, Keskes L, Fakhfakh F, Ayadi H. Hadjkacem-Loukil L, et al. Among authors: ayadi h. Genet Test Mol Biomarkers. 2010 Sep 6. doi: 10.1089/gtmb.2010.0019. Epub 2010 Sep 6. Genet Test Mol Biomarkers. 2010. Retraction in: Genet Test Mol Biomarkers. 2011 Sep;15(9):664. doi: 10.1089/gtmb.2010.0019.ret PMID: 20818979 Retracted.

8

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M. Bougacha-Elleuch N, et al. Among authors: ayadi h. Eur J Pediatr. 2015 Nov;174(11):1491-501. doi: 10.1007/s00431-015-2550-4. Epub 2015 May 13. Eur J Pediatr. 2015. PMID: 25968604

9

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

10

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

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