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Page 1
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. Clin Biochem. 2011 May;44(7):510-511. doi: 10.1016/j.clinbiochem.2011.02.031. Clin Biochem. 2011. PMID: 22036352 No abstract available.
[Genetic deafness in adults].
Marlin S, Jonard L, Feldmann D, Loundon N, Rouillon I, Couderc R, Denoyelle F. Marlin S, et al. Among authors: jonard l. Rev Prat. 2009 May 20;59(5):630-1. Rev Prat. 2009. PMID: 19552200 French. No abstract available.
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F. Feldmann D, et al. Among authors: jonard l. Eur J Med Genet. 2009 Jul-Aug;52(4):195-200. doi: 10.1016/j.ejmg.2008.11.006. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19101659
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. Among authors: jonard l. 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.
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. Among authors: jonard l. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
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: jonard l. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.
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: jonard l. Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228. Otol Neurotol. 2013. PMID: 24232061
50 results