Baux D - Search Results

1

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: baux d. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.

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. Hum Mutat. 2007 Aug;28(8):781-9. doi: 10.1002/humu.20513. Hum Mutat. 2007. PMID: 17405132

3

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

Taulan M, Lopez E, Guittard C, René C, Baux D, Altieri JP, DesGeorges M, Claustres M, Romey MC. Taulan M, et al. Among authors: baux d. Biochem Biophys Res Commun. 2007 Sep 28;361(3):775-81. doi: 10.1016/j.bbrc.2007.07.091. Epub 2007 Jul 25. Biochem Biophys Res Commun. 2007. PMID: 17678620

4

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

5

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: baux d. 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

6

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux AF, des Georges M, Béroud C, Claustres M. Humbertclaude V, et al. Among authors: baux d. Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1. Pathol Biol (Paris). 2010. PMID: 19954899 Free article. Review. French.

7

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

8

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Aller E, et al. Among authors: baux d. Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145675 Free PMC article.

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: baux d. 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: baux d. 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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