Výsledky vyhledávání - "Carine Templin"

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Autor: Jean-Pierre Altiéri, Carine Templin, C. Guittard, Jacques Sarles, Mireille Claustres, Pierre Sarda, Marie des Georges

Publikováno v: Journal of Cystic Fibrosis. 3(4):265-272

In this report, we present updated spectrum and frequency of mutations of the CFTR gene that are responsible for cystic fibrosis (CF) in Languedoc-Roussillon (L-R), the southwestern part of France. A total of 75 different mutations were identified by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf5c9ff97242784966be2491420759d

Zobrazit plný text záznamu

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

Autor: Mireille Claustres, Carine Templin, C. Guittard, J.P. Altieri, Candice Lee de Carvalho, Michèle Ramsay, Marie des Georges

Publikováno v: The Journal of molecular diagnostics : JMD. 10(6)

By performing extensive scanning of whole coding and flanking sequences of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene, we had previously identified the CF-causing mutations in black South African patients of different et

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013e8b9d7d7eed55c18348fe93f487d3
https://pubmed.ncbi.nlm.nih.gov/18832460

Zobrazit plný text záznamu

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: Improved Molecular Diagnosis of CBAVD

Autor: Marie des Georges, Corinne Bareil, J.P. Altieri, Carine Templin, Mireille Claustres, C. Guittard

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2007, 9 (5), pp.582-588. ⟨10.2353/jmoldx.2007.070040⟩

International audience; Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a5e12d1e0394b8e255b2dbec5dabee
https://www.hal.inserm.fr/inserm-00185153/document

Zobrazit plný text záznamu

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

Autor: J-P Altieri, Carine Templin, N. Stremler, Mireille Claustres, M. Des Georges, A. Girardet, Christophe Béroud, C. Guittard

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2007, 72 (4), pp.374-377. ⟨10.1111/j.1399-0004.2007.00850.x⟩
Clinical Genetics, 2007, 72 (4), pp.374-377. ⟨10.1111/j.1399-0004.2007.00850.x⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e017fe4632bb0ed4619a984aee43b289
https://pubmed.ncbi.nlm.nih.gov/17850636

Zobrazit plný text záznamu

Molecular epidemiology of DFNB1 deafness in France

Autor: Carine Templin, Patricia Blanchet, Dorothée Leprevost, Nathalie Pallares-Ruiz, Françoise Artières, Geneviève Lina, Michel Mondain, Mireille Claustres, Nicolas Molinari, Anne Vielle, Anne-Françoise Roux, Valérie Faugère

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 5, Iss 1, p 5 (2004)

Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5695cbdb9df868c08bc67f00ff52a3
https://pubmed.ncbi.nlm.nih.gov/15070423

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání