des Georges M - Search Results

1

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

2

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.

3

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.

4

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.

5

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.

6

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: des georges m. Hum Mutat. 2013 May;34(5):774-84. doi: 10.1002/humu.22291. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23381846

7

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. 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

8

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.

9

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.

10

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.

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