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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.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R, Riahi Z, Charfeddine C, Chelly I, Boudabbous H, Dallali H, Bonnet C, Hechmi M, Bekri S, Zitouna N, Zekri L, Tounsi A, Kefi R, Marrakchi J, Messaoud O, Kraoua I, Maalej S, Turki Ben Youssef I, Ben Hmid A, Giraudet F, Bouchoucha S, Tebib N, Besbes G, Petit C, Mrad R, Abdelhak S, Trabelsi M. Mkaouar R, et al. Among authors: riahi z. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 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.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: riahi z. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
34 results