Faugère V - Search Results

1

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: faugere v. Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30341801

2

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.

Faugère V, Tuffery-Giraud S, Hamel C, Claustres M. Faugère V, et al. BMC Genet. 2003 Jan 7;4:1. doi: 10.1186/1471-2156-4-1. Epub 2003 Jan 7. BMC Genet. 2003. PMID: 12515581 Free PMC article.

3

Molecular epidemiology of DFNB1 deafness in France.

Roux AF, Pallares-Ruiz N, Vielle A, Faugère V, Templin C, Leprevost D, Artières F, Lina G, Molinari N, Blanchet P, Mondain M, Claustres M. Roux AF, et al. Among authors: faugere v. BMC Med Genet. 2004 Mar 6;5:5. doi: 10.1186/1471-2350-5-5. BMC Med Genet. 2004. PMID: 15070423 Free PMC article.

4

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.

Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF. Le Guédard S, et al. Among authors: faugere v. Mol Vis. 2007 Jan 26;13:102-7. Mol Vis. 2007. PMID: 17277737 Free PMC article.

5

[Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits].

Blanchet C, Roux AF, Hamel C, Ben Salah S, Artières F, Faugère V, Uziel A, Mondain M. Blanchet C, et al. Among authors: faugere v. Rev Laryngol Otol Rhinol (Bord). 2007;128(3):137-43. Rev Laryngol Otol Rhinol (Bord). 2007. PMID: 18323324 French.

6

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: faugere v. Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780. Hum Mutat. 2008. PMID: 18484607

7

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF. Ammar-Khodja F, et al. Among authors: faugere v. Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. doi: 10.1016/j.ejmg.2009.03.018. Epub 2009 Apr 16. Eur J Med Genet. 2009. PMID: 19375528

8

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: faugere v. Hum Mutat. 2010 Mar;31(3):347-55. doi: 10.1002/humu.21193. Hum Mutat. 2010. PMID: 20052763

9

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. Among authors: faugere v. Hum Mutat. 2010 Jun;31(6):734-41. doi: 10.1002/humu.21255. Hum Mutat. 2010. PMID: 20513143

10

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: faugere v. Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869. Invest Ophthalmol Vis Sci. 2011. PMID: 21436283

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