Des Georges M - Search Results

1

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.

Lopez E, Viart V, Guittard C, Templin C, René C, Méchin D, Des Georges M, Claustres M, Romey-Chatelain MC, Taulan M. Lopez E, et al. Among authors: des georges m. J Med Genet. 2011 Mar;48(3):152-9. doi: 10.1136/jmg.2010.081851. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972246 Free article.

2

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Claustres M, et al. Among authors: des georges m. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.

3

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Taulan M, et al. Among authors: des georges m. BMC Med Genet. 2007 Apr 20;8:22. doi: 10.1186/1471-2350-8-22. BMC Med Genet. 2007. PMID: 17448246 Free PMC article.

4

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Bareil C, et al. Among authors: des georges m. J Mol Diagn. 2007 Nov;9(5):582-8. doi: 10.2353/jmoldx.2007.070040. J Mol Diagn. 2007. PMID: 17975025 Free PMC article.

5

WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

des Georges M, Guittard C, Templin C, Altiéri JP, de Carvalho C, Ramsay M, Claustres M. des Georges M, et al. J Mol Diagn. 2008 Nov;10(6):544-8. doi: 10.2353/jmoldx.2008.080028. Epub 2008 Oct 2. J Mol Diagn. 2008. PMID: 18832460 Free PMC article.

6

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.

Viart V, Des Georges M, Claustres M, Taulan M. Viart V, et al. Among authors: des georges m. Eur J Hum Genet. 2012 Feb;20(2):180-4. doi: 10.1038/ejhg.2011.161. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847140 Free PMC article.

7

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.

Taulan M, Viart V, Theze C, Guittard C, Altieri JP, Templin C, Mely L, Claustres M, des Georges M. Taulan M, et al. Among authors: des georges m. Gene. 2012 Jun 1;500(2):194-8. doi: 10.1016/j.gene.2012.03.043. Epub 2012 Mar 29. Gene. 2012. PMID: 22484595

8

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJ, Westwood AT, Claustres M, Ramsay M. Carles S, et al. J Med Genet. 1996 Sep;33(9):802-4. doi: 10.1136/jmg.33.9.802. J Med Genet. 1996. PMID: 8880589 Free PMC article.

9

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. de Meeus A, et al. J Med Genet. 1998 Jul;35(7):594-6. doi: 10.1136/jmg.35.7.594. J Med Genet. 1998. PMID: 9678705 Free PMC article.

10

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

des Georges M, Guittard C, Altiéri JP, Templin C, Sarles J, Sarda P, Claustres M. des Georges M, et al. J Cyst Fibros. 2004 Dec;3(4):265-72. doi: 10.1016/j.jcf.2004.04.008. J Cyst Fibros. 2004. PMID: 15698946 Free article.

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