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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
Riahi Z, Zainine R, Mellouli Y, Hannachi R, Bouyacoub Y, Laroussi N, Beltaief N, Kefi R, Romdhane L, Bonnet C, Abdelhak S, Besbes G. Riahi Z, et al. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1481-4. doi: 10.1016/j.ijporl.2013.06.013. Epub 2013 Jul 12. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23856378 Review.
A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S. Riahi Z, et al. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1485-8. doi: 10.1016/j.ijporl.2013.06.015. Epub 2013 Jul 12. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23856379
Specific aspects of consanguinity: some examples from the Tunisian population.
Romdhane L, Ben Halim N, Rejeb I, Kefi R, Bouyacoub Y, Ben Rekaya M, Messai H, Messaoud O, Riahi Z, Bonnet C, Ben Rhouma F, Nagara M, Petit C, McElreavey K, Romeo G, Abdelhak S. Romdhane L, et al. Among authors: riahi z. Hum Hered. 2014;77(1-4):167-74. doi: 10.1159/000362167. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060280 Free article. Review.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Among authors: riahi z. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 Free PMC article.
40 results