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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: bonnet c. Hum Hered. 2014;77(1-4):167-74. doi: 10.1159/000362167. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060280 Free article. Review.
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. Among authors: bonnet c. 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. Among authors: bonnet c. 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
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. Among authors: bonnet c. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: bonnet c. PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584. eCollection 2015. PLoS One. 2015. PMID: 25798947 Free PMC article.
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: bonnet c. 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. 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.
768 results