Roux AF - Search Results

1

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. Among authors: roux af. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 22009552

2

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. Pallares-Ruiz N, et al. Among authors: roux af. Eur J Hum Genet. 2002 Jan;10(1):72-6. doi: 10.1038/sj.ejhg.5200762. Eur J Hum Genet. 2002. PMID: 11896458

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. 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

Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.

Venail F, Roux AF, Pallares-Ruiz N, Claustres M, Blanchet P, Gardiner Q, Mondain M. Venail F, et al. Among authors: roux af. Laryngoscope. 2004 Mar;114(3):566-9. doi: 10.1097/00005537-200403000-00033. Laryngoscope. 2004. PMID: 15091236

5

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: roux af. Mol Vis. 2007 Jan 26;13:102-7. Mol Vis. 2007. PMID: 17277737 Free PMC article.

6

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF. Baux D, et al. Among authors: roux af. Hum Mutat. 2007 Aug;28(8):781-9. doi: 10.1002/humu.20513. Hum Mutat. 2007. PMID: 17405132

7

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: roux af. Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780. Hum Mutat. 2008. PMID: 18484607

8

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: roux af. 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

9

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: roux af. Hum Mutat. 2009 Sep;30(9):1329-39. doi: 10.1002/humu.21070. Hum Mutat. 2009. PMID: 19606495

10

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Khau Van Kien P, et al. Among authors: roux af. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.

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