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763 results

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S. Paul A, et al. Among authors: bonnet c. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965846 Free PMC article.
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S. Jonard L, et al. Among authors: bonnet c. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi: 10.1016/j.ijporl.2010.06.002. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20621367
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.
Molecular diagnosis of genetic deafness.
Jonard L, Marlin S, Louha M, Bonnet C, Couderc R, Garabedian N, Denoyelle F; all the team of Centre de Référence des Surdités Génétiques, Hôpital Trousseau, APHP, Paris, France. Jonard L, et al. Among authors: bonnet c. Clin Biochem. 2011 May;44(7):510-511. doi: 10.1016/j.clinbiochem.2011.02.031. Clin Biochem. 2011. PMID: 22036352 No abstract available.
Discovery of a large deletion of KAL1 in 2 deaf brothers.
Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, Bonnet C, Louha M, Gherbi S, Garabedian EN, Couderc R, Denoyelle F. Marlin S, et al. Among authors: bonnet c. Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228. Otol Neurotol. 2013. PMID: 24232061
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.
763 results