Výsledky vyhledávání - "Fanny Verneau"

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis

Autor: Anne Bergougnoux, Thierry Bienvenu, Jean-Marie Jouannic, Natacha Gaitch, Fanny Verneau, C. Raynal, Emmanuelle Girodon

Publikováno v: Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (5), pp.312-316. ⟨10.1159/000489120⟩

Background: Cystic fibrosis (CF) can be revealed during fetal life by diverse ultrasound digestive abnormalities (USDA) such as fetal echogenic bowel or fetal intestinal loop dilatation, nonvisualization of the fetal gallbladder (NVFGB) being rarely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a476adc1f2e1c6cd96c2ca9ebc7ee869
https://hal.umontpellier.fr/hal-02434849

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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

Autor: Heidi Rossmann, Anne Bergougnoux, Giuseppe Castaldo, Francesco Salvatore, Antonella Telese, Irene Postiglione, Stefanie Sollfrank, Fanny Verneau, Karl J. Lackner, Valeria D'Argenio, Mireille Claustres, Caroline Raynal

Publikováno v: Clinical Chemistry and Laboratory Medicine
Clinical Chemistry and Laboratory Medicine, De Gruyter, 2018, 56 (7), pp.1046-1053. ⟨10.1515/cclm-2017-0553⟩

Background:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dacff8c475c1265db75b79d04b64f739
https://hal.archives-ouvertes.fr/hal-02329312

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WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

Autor: E. Girodon, Anne Bergougnoux, N. Gaitch, Thierry Bienvenu, Jean-Marie Jouannic, C. Raynal, Fanny Verneau

Publikováno v: Journal of Cystic Fibrosis. 17:S17-S18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59a5085bc2458aec4c0337bc9fdcf784
https://doi.org/10.1016/s1569-1993(18)30172-3

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A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

Autor: J.P. Altieri, Anne Bergougnoux, Michel Koenig, C. Raynal, Lise Larrieu, Cécile Rouzier, Mireille Claustres, Amandine Boureau-Wirth, Fanny Verneau

Publikováno v: Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2016, 15 (3), pp.309-312. ⟨10.1016/j.jcf.2016.04.003⟩

International audience; The detection of two frequent CFTR disease-causing variations in the context of a newborn screening program (NBS) usually leads to the diagnosis of cystic fibrosis (CF) and a relevant genetic counseling in the family. In the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a479890813b39cf5c1a61fef724462c
https://hal.archives-ouvertes.fr/hal-01869738

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WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach

Autor: Claude Férec, J.-P. Altieri, E. Girodon, M. des Georges, Magali Taulan-Cadars, Mireille Claustres, C. Thèze, Jessica Varilh, C. Raynal, Emmanuelle Beyne, Fanny Verneau, Sylvie Tuffery-Giraud, Jennifer Bonini, M.-P. Audrézet, Thierry Bienvenu

Publikováno v: Journal of Cystic Fibrosis. 14:S31

Considering that the extensive study of the CFTR gene classically performed in molecular diagnosis does not detect all disease-causing mutations, we previously developed an approach for a complete resequencing of the CFTR locus to search for mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b65559ed408401d2f476a20d781b72c9
https://doi.org/10.1016/s1569-1993(15)30098-9

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3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene

Autor: J.P. Altieri, A. Devos, M. des Georges, Guy Lalau, Fanny Verneau, A. Pagin

Publikováno v: Journal of Cystic Fibrosis. :S48

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f1df8b1313c1e26d6fe1885034c622

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The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Autor: Mireille Claustres, Damien Paulet, C. Raynal, Michel Koenig, Alan Lahure, David Baux, Souphatta Sasorith, Anne-Françoise Roux, C. Bareil, Magali Taulan-Cadars, Anne Bergougnoux

Publikováno v: Human Mutation
Human Mutation, Wiley, 2019, 41 (2), pp.375-386. ⟨10.1002/humu.23941⟩

International audience; Exome sequencing used for molecular diagnosis of Mendelian disorders considerably increases the number of missense variants of unclear significance, whose pathogenicity can be assessed by a variety of prediction tools. As the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee443507529c5c69c1f9d78033f4567
https://hal.umontpellier.fr/hal-02547886

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