Weil D - Search Results

1

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: weil d. 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.

2

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Chapiro E, Feldmann D, Denoyelle F, Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN, Couderc R, Petit C, Marlin S. Chapiro E, et al. Among authors: weil d. Eur J Hum Genet. 2002 Dec;10(12):851-6. doi: 10.1038/sj.ejhg.5200894. Eur J Hum Genet. 2002. PMID: 12461693

3

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

Feldmann D, Denoyelle F, Loundon N, Weil D, Garabedian EN, Couderc R, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Ferrec C, Drouin-Garraud V, Obstoy MF, Moati L, Petit C, Marlin S. Feldmann D, et al. Among authors: weil d. Eur J Hum Genet. 2004 Apr;12(4):279-84. doi: 10.1038/sj.ejhg.5201147. Eur J Hum Genet. 2004. PMID: 14694360

4

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: weil d. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.

5

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C. Adato A, et al. Among authors: weil d. Hum Mol Genet. 2005 Dec 15;14(24):3921-32. doi: 10.1093/hmg/ddi416. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301217

6

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.

Lefèvre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin JP, Petit C. Lefèvre G, et al. Among authors: weil d. Development. 2008 Apr;135(8):1427-37. doi: 10.1242/dev.012922. Epub 2008 Mar 13. Development. 2008. PMID: 18339676

7

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Delmaghani S, et al. Among authors: weil d. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678063

8

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

Ammar-Khodja F, Bonnet C, Dahmani M, Ouhab S, Lefèvre GM, Ibrahim H, Hardelin JP, Weil D, Louha M, Petit C. Ammar-Khodja F, et al. Among authors: weil d. Mol Genet Genomic Med. 2015 May;3(3):189-96. doi: 10.1002/mgg3.131. Epub 2015 Feb 15. Mol Genet Genomic Med. 2015. PMID: 26029705 Free PMC article.

9

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C. Denoyelle F, et al. Among authors: weil d. Lancet. 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. Lancet. 1999. PMID: 10218527

10

Interactions in the network of Usher syndrome type 1 proteins.

Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. Adato A, et al. Among authors: weil d. Hum Mol Genet. 2005 Feb 1;14(3):347-56. doi: 10.1093/hmg/ddi031. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590703

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