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Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.
Fakin A, Šuštar M, Brecelj J, Bonnet C, Petit C, Zupan A, Glavač D, Jarc-Vidmar M, Battelino S, Hawlina M. Fakin A, et al. Among authors: bonnet c. Genes (Basel). 2019 Nov 21;10(12):956. doi: 10.3390/genes10120956. Genes (Basel). 2019. PMID: 31766479 Free PMC article.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Bonnet C, et al. Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21. Orphanet J Rare Dis. 2011. PMID: 21569298 Free PMC article.
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.
736 results