Roux AF - Search Results

1

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: roux af. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.

2

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

3

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

4

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

5

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: roux af. Hum Mutat. 2010 Jun;31(6):734-41. doi: 10.1002/humu.21255. Hum Mutat. 2010. PMID: 20513143

6

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

7

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: roux af. Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6. Hum Mutat. 2012. PMID: 22147658

8

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: roux af. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551

9

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Raynal C, Baux D, Theze C, Bareil C, Taulan M, Roux AF, Claustres M, Tuffery-Giraud S, des Georges M. Raynal C, et al. Among authors: roux af. Hum Mutat. 2013 May;34(5):774-84. doi: 10.1002/humu.22291. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23381846

10

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugère V, Vaché C, Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: roux af. Hum Mutat. 2014 Oct;35(10):1179-86. doi: 10.1002/humu.22608. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24944099

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