Výsledky vyhledávání - "Marie des Georges"

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d94649107a5df7bd50ecbac3d53120f
https://doi.org/10.1016/j.jcf.2015.02.012

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CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Publikováno v: Human Mutation
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

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

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821020320fdb0c252486cea6924c037d
https://doi.org/10.1016/j.gene.2012.03.043

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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

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
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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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f26b0c609894490c990e6d08fcb2efb
https://doi.org/10.1002/humu.21511

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

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b240bdb033103a1f30c9e854017ac309
https://doi.org/10.1136/jmg.2010.081851

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CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::84026179231210269cb9c439a32f7461
https://doi.org/10.1111/j.1469-1809.2010.00591.x

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Cystic Fibrosis Transmembrane Conductance Regulator Mutation Spectrum in Patients with Cystic Fibrosis in Tunisia

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84552bc6b2fee7ce22449e625cda9e9c
https://doi.org/10.1089/gtmb.2009.0028

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Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab124b2c928b112800a500be09851fb3
https://doi.org/10.1002/humu.21011

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A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Autor: Mireille Claustres, Marie des Georges, C. Guittard, C. Thèze, Magali Taulan

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10262a9693acd7a9ec28ce961dd59160
https://doi.org/10.1038/ejhg.2009.73

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