Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Marie des Georges"'
Autor:
Nicolas Molinari, Victoria Viart, Julie Miro, Anne Bergougnoux, Sébastien Bommart, Magali Taulan-Cadars, Marie des Georges, Mireille Claustres, Raphaël Chiron
Publikováno v:
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2015, 14 (5), pp.646-653. ⟨10.1016/j.jcf.2015.02.012⟩
Journal of Cystic Fibrosis, Elsevier, 2015, 14 (5), pp.646-653. ⟨10.1016/j.jcf.2015.02.012⟩
Background Although several comprehensive studies have evaluated the role of the CFTR gene in idiopathic diffuse bronchiectasis (DB), it remains controversial. Methods We analyzed the whole coding region of the CFTR gene, its flanking regions and the
Autor:
Ingrid Duguépéroux, Emmanuelle Girodon, C. Thèze, David Baux, Marie-Pierre Audrézet, M.-P. Reboul, V. Gaston, Eric Bieth, Thierry Bienvenu, Marie des Georges, Lydie Lemonnier, C. Bareil, Mireille Claustres, C. Raynal, Guy Lalau, Marie-Claire Malinge, Souphatta Sasorith, Vincent Thoreau, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Patricia Fergelot, Alain Kitzis, Claude Férec, A. Pagin
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
International audience; Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8082cfd704b4f7ba7405b39279e65427
https://hal.umontpellier.fr/hal-02434844
https://hal.umontpellier.fr/hal-02434844
Autor:
C. Thèze, J.P. Altieri, Magali Taulan, Laurent Mely, Victoria Viart, Mireille Claustres, Marie des Georges, Carine Templin, C. Guittard
Publikováno v:
Gene
Gene, Elsevier, 2012, 500 (2), pp.194-198. ⟨10.1016/j.gene.2012.03.043⟩
Gene, Elsevier, 2012, 500 (2), pp.194-198. ⟨10.1016/j.gene.2012.03.043⟩
International audience; In European populations, large rearrangements contribute to approximately 2% of CF mutations. Here, we reported a novel duplication, the CFTRdup2, identified in a patient heterozygous for Phe508del and suffering from a mild CF
Autor:
Bernhard, Steiner, Jonas, Rosendahl, Heiko, Witt, Niels, Teich, Volker, Keim, Hans-Ulrich, Schulz, Roland, Pfützer, Matthias, Löhr, Matthias, Lühr, Thomas M, Gress, Renate, Nickel, Olfert, Landt, Monika, Koudova, Milan, Macek, Antoni, Farre, Teresa, Casals, Marie-Claire, Desax, Sabina, Gallati, Macarena, Gomez-Lira, Marie Pierre, Audrezet, Claude, Férec, Marie, des Georges, Mireille, Claustres, Kaspar, Truninger
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2011, 32 (8), pp.912-920. ⟨10.1002/humu.21511⟩
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Mutation, Wiley, 2011, 32 (8), pp.912-920. ⟨10.1002/humu.21511⟩
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common
Autor:
Marie des Georges, Mireille Claustres, Déborah Méchin, Magali Taulan, Carine Templin, Marie-Catherine Romey-Chatelain, Estelle Lopez, Victoria Viart, Céline René, C. Guittard
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.152. ⟨10.1136/jmg.2010.081851⟩
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.152. ⟨10.1136/jmg.2010.081851⟩
International audience; Background: CBAVD (Congenital Bilateral Absence of the Vas Deferens), a frequent cause of obstructive azoospermia, is generated by mutations in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene. Despite exten
Autor:
Javier Giménez, Marie des Georges, Laia Masvidal, Manuela Seia, Lluís Armengol, Maria D. Ramos, Eric Bieth, Teresa Casals
Publikováno v:
Annals of Human Genetics. 74:463-469
Developments in quantitative PCR technologies have greatly improved our ability to detect large genome rearrangements. In particular oligonucleotide-based array comparative genomic hybridisation has become a useful tool for appropriate and rapid dete
Autor:
Sondess Hadj Fredj, Taieb Messaoud, Fattoum S, Carine Templin, Mireille Claustres, Marie des Georges
Publikováno v:
Genetic Testing and Molecular Biomarkers. 13:577-581
To determine the frequency and types of mutations causing cystic fibrosis (CF) in Tunisia.We analyzed the complete coding region and flanking intronic sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 68 unrelated pa
Autor:
Marianne Schwartz, Veronika Skalická, Miroslava Balascakova, Manfred Stuhrmann, Martine Jaspers, Frauke Stanke, Kris De Boeck, Burkhard Tümmler, Isabelle de Monestrol, Judit Korbmacher, Brigitte Boissier, Lena Hjelte, Yann Fichou, Harry Cuppens, L. Bassinet, Mireille Claustres, Abul Kalam Azad, Marie des Georges, Dragica Radojkovic, Christoph Korbmacher, Robert Rauh, Jean-Jacques Cassiman, Martin Schwarz, François Vermeulen, Emmanuelle Girodon, Lieven Dupont, Claude Férec, Carlo Castellani, Patrick Lebecque
Publikováno v:
Human Mutation. 30:1093-1103
We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could
Publikováno v:
European Journal of Human Genetics. 17:1683-1687
Large genomic rearrangements in patients with cystic fibrosis (CF) account for up to 16–24% of CF alleles negative for point mutations in European populations. Herein, we identified a new large rearrangement removing exon 19 in a young CF patient,
Autor:
Emmanuelle Beyne, Sylvie Tuffery-Giraud, Jennifer Bonini, Jessica Varilh, Emmanuelle Girodon, C. Thèze, Mireille Claustres, Claude Férec, Marie-Pierre Audrézet, Thierry Bienvenu, C. Raynal, Magali Taulan-Cadars, Marie des Georges
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2015, 17 (10), pp.796-806. ⟨10.1038/gim.2014.194⟩
Genetics in Medicine, Nature Publishing Group, 2015, 17 (10), pp.796-806. ⟨10.1038/gim.2014.194⟩
International audience; PURPOSE:Although 97-99% of CFTR mutations have been identified, great efforts must be made to detect yet-unidentified mutations.METHODS:We developed a small-scale next-generation sequencing approach for reliably and quickly sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89638abcbc07e394512908bf8f45aa7f
https://hal.umontpellier.fr/hal-02434833
https://hal.umontpellier.fr/hal-02434833