Claustres M - 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: claustres m. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.

2

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.

Bareil C, Hamel C, Pallarès-Ruiz N, Arnaud B, Demaille J, Claustres M. Bareil C, et al. Among authors: claustres m. Ophthalmic Genet. 1999 Sep;20(3):173-82. doi: 10.1076/opge.20.3.173.2282. Ophthalmic Genet. 1999. PMID: 10521250

3

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M. Pallares-Ruiz N, et al. Among authors: claustres m. Hum Reprod. 1999 Dec;14(12):3035-40. doi: 10.1093/humrep/14.12.3035. Hum Reprod. 1999. PMID: 10601093

4

A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.

Romey MC, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, Claustres M. Romey MC, et al. Among authors: claustres m. J Biol Chem. 2000 Feb 4;275(5):3561-7. doi: 10.1074/jbc.275.5.3561. J Biol Chem. 2000. PMID: 10652351 Free article.

5

W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.

Bareil C, Delague V, Arnaud B, Demaille J, Hamel C, Claustres M. Bareil C, et al. Among authors: claustres m. Hum Mutat. 2000 Jun;15(6):583-4. doi: 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X. Hum Mutat. 2000. PMID: 10862101 No abstract available.

6

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: claustres m. Eur J Hum Genet. 2002 Jan;10(1):72-6. doi: 10.1038/sj.ejhg.5200762. Eur J Hum Genet. 2002. PMID: 11896458

7

Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.

Pallares-Ruiz N, Blanchet P, Mondain M, Low-Hong S, Demaille J, Claustres M, Roux AF. Pallares-Ruiz N, et al. Among authors: claustres m. Genet Test. 2001 Winter;5(4):339-43. doi: 10.1089/109065701753617507. Genet Test. 2001. PMID: 11960582

8

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: claustres m. BMC Med Genet. 2004 Mar 6;5:5. doi: 10.1186/1471-2350-5-5. BMC Med Genet. 2004. PMID: 15070423 Free PMC article.

9

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: claustres m. Laryngoscope. 2004 Mar;114(3):566-9. doi: 10.1097/00005537-200403000-00033. Laryngoscope. 2004. PMID: 15091236

10

First molecular screening of deafness in the Altai Republic population.

Posukh O, Pallares-Ruiz N, Tadinova V, Osipova L, Claustres M, Roux AF. Posukh O, et al. Among authors: claustres m. BMC Med Genet. 2005 Mar 24;6:12. doi: 10.1186/1471-2350-6-12. BMC Med Genet. 2005. PMID: 15790391 Free PMC article.

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