Vaché C - Search Results

1

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF. Vaché C, et al. Eur J Hum Genet. 2023 Jul;31(7):834-840. doi: 10.1038/s41431-023-01374-0. Epub 2023 May 12. Eur J Hum Genet. 2023. PMID: 37173411 Free PMC article.

2

Drosophila melanogaster p-glycoprotein: a membrane detoxification system toward polycyclic aromatic hydrocarbon pollutants.

Vaché C, Camares O, De Graeve F, Dastugue B, Meiniel A, Vaury C, Pellier S, Leoz-Garziandia E, Bamdad M. Vaché C, et al. Environ Toxicol Chem. 2006 Feb;25(2):572-80. doi: 10.1897/04-425.1. Environ Toxicol Chem. 2006. PMID: 16519321

3

A potential genomic biomarker for the detection of polycyclic aromatic hydrocarbon pollutants: multidrug resistance gene 49 in Drosophila melanogaster.

Vache C, Camares O, Cardoso-Ferreira MC, Dastugue B, Creveaux I, Vaury C, Bamdad M. Vache C, et al. Environ Toxicol Chem. 2007 Jul;26(7):1418-24. doi: 10.1897/06-552r.1. Environ Toxicol Chem. 2007. PMID: 17665681

4

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.

Le Guédard-Méreuze S, Vaché C, Molinari N, Vaudaine J, Claustres M, Roux AF, Tuffery-Giraud S. Le Guédard-Méreuze S, et al. Among authors: vache c. Hum Mutat. 2009 Sep;30(9):1329-39. doi: 10.1002/humu.21070. Hum Mutat. 2009. PMID: 19606495

5

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Le Guédard-Méreuze S, Vaché C, Baux D, Faugère V, Larrieu L, Abadie C, Janecke A, Claustres M, Roux AF, Tuffery-Giraud S. Le Guédard-Méreuze S, et al. Among authors: vache c. Hum Mutat. 2010 Mar;31(3):347-55. doi: 10.1002/humu.21193. Hum Mutat. 2010. PMID: 20052763

6

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Vaché C, Besnard T, Blanchet C, Baux D, Larrieu L, Faugère V, Mondain M, Hamel C, Malcolm S, Claustres M, Roux AF. Vaché C, et al. Hum Mutat. 2010 Jun;31(6):734-41. doi: 10.1002/humu.21255. Hum Mutat. 2010. PMID: 20513143

7

Four-year follow-up of diagnostic service in USH1 patients.

Roux AF, Faugère V, Vaché C, Baux D, Besnard T, Léonard S, Blanchet C, Hamel C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D, Holder-Espinasse M, Ambrosetti U, Journel H, David A, Lina-Granade G, Malcolm S, Claustres M. Roux AF, et al. Among authors: vache c. Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869. Invest Ophthalmol Vis Sci. 2011. PMID: 21436283

8

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF. Vaché C, et al. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 22009552

9

Non-USH2A mutations in USH2 patients.

Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A, Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF. Besnard T, et al. Among authors: vache c. Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6. Hum Mutat. 2012. PMID: 22147658

10

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.

García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF. García-García G, et al. Among authors: vache c. Mol Vis. 2013;19:367-73. Epub 2013 Feb 13. Mol Vis. 2013. PMID: 23441107 Free PMC article.

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