Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Jacqueline, Bou"'
Autor:
Alice Goldenberg, Florent Marguet, Vianney Gilard, Aude-Marie Cardine, Adnan Hassani, François Doz, Sophie Radi, Stéphanie Vasseur, Jacqueline Bou, Maud Branchaud, Claude Houdayer, Stéphanie Baert-Desurmont, Annie Laquerriere, Thierry Frebourg
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-5 (2019)
Abstract The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a youn
Externí odkaz:
https://doaj.org/article/549617bf83d446eebad29ee4e57e1dea
Autor:
Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a6f3ab544384d46aa5c88805403359
https://doi.org/10.1038/s41431-020-0672-2
https://doi.org/10.1038/s41431-020-0672-2
Autor:
Maud Blanluet, Jacqueline Bou, Jacques Mauillon, Sandrine Manase, Steeve Fourneaux, Stéphanie Baert-Desurmont, Olivier Quenez, Julie Tinat, Marion Gérard, François Lecoquierre, Emilie Bouvignies, Myriam Vezain, Régine Marlin, Mathias Schwartz, Raphaël Lanos, Thierry Frebourg, Isabelle Tournier, Pierre Macquere, Sophie Coutant, Stéphanie Vasseur, Gaëlle Bougeard, Françoise Charbonnier
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩
We have developed and validated for the diagnosis of inherited colorectal cancer (CRC) a massive parallel sequencing strategy based on: (i) fast capture of exonic and intronic sequences from ten genes involved in Mendelian forms of CRC (MLH1, MSH2, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4937e1ac336fb093623b937276fb096b
https://doi.org/10.1038/s41431-018-0207-2
https://doi.org/10.1038/s41431-018-0207-2
Autor:
Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne-Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Géraldine Joly Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean-François Deleuze, Isabelle Tournier, Francoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frebourg, Pascale Saugier-Veber, Stephanie Baert-Desurmont, Dominique Campion, Anne Rovelet-Lecrux, Gaël Nicolas
Publikováno v:
HAL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::79e01e41e95a2fc5f5b2e07263301620
https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/document
https://hal-normandie-univ.archives-ouvertes.fr/hal-02317979v2/document
Autor:
Michel Longy, Gaëlle Bougeard, Steeve Fourneaux, Léa Guerrini-Rousseau, Bruno Leheup, Edwige Kasper, Myriam Vezain, Jean-Christophe Sabourin, Ludovic Mansuy, Nicolas Sevenet, Isabelle Tournier, Sandrine Manase, Thierry Frebourg, Stéphanie Baert-Desurmont, Jacqueline Champigneulle, Pierre Fermey, Mariette Renaux-Petel, Jean-Christophe Thery, Françoise Charbonnier, Laurence Brugières, Maud Blanluet, Brigitte Bressac-de Paillerets, Jacqueline Bou, Sophie Coutant, Céline Chappé, Olivier Caron, Gwendoline Lienard
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩
BackgroundDevelopment of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d48a62eade871627bfb7bcfba020ecd
https://hal.archives-ouvertes.fr/hal-02355680
https://hal.archives-ouvertes.fr/hal-02355680
Autor:
Mariette, Renaux-Petel, Françoise, Charbonnier, Jean-Christophe, Théry, Pierre, Fermey, Gwendoline, Lienard, Jacqueline, Bou, Sophie, Coutant, Myriam, Vezain, Edwige, Kasper, Steeve, Fourneaux, Sandrine, Manase, Maud, Blanluet, Bruno, Leheup, Ludovic, Mansuy, Jacqueline, Champigneulle, Céline, Chappé, Michel, Longy, Nicolas, Sévenet, Brigitte Bressac-de, Paillerets, Léa, Guerrini-Rousseau, Laurence, Brugières, Olivier, Caron, Jean-Christophe, Sabourin, Isabelle, Tournier, Stéphanie, Baert-Desurmont, Thierry, Frébourg, Gaëlle, Bougeard
Publikováno v:
Journal of medical genetics. 55(3)
Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c99e210b07586de54f4bd54ca878593
https://pubmed.ncbi.nlm.nih.gov/29070607
https://pubmed.ncbi.nlm.nih.gov/29070607
Autor:
Claire, Lenormand, Jérôme, Couteau, François-Xavier, Nouhaud, Géraldine, Maillet, Jacqueline, Bou, Françoise, Gobet, Christian, Pfister
Publikováno v:
Anticancer research. 36(4)
To assess the potential predictive value of natural resistance-associated macrophage protein 1 (NRAMP1) and human glutathione peroxidase 1 (hGPX1) polymorphism in non-muscle-invasive bladder cancer treated with bacillus Calmette-Guerin (BCG) instilla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1faba6f0ac9017f69134d4eb37aa835b
https://pubmed.ncbi.nlm.nih.gov/27069153
https://pubmed.ncbi.nlm.nih.gov/27069153
Autor:
Annie Laquerrière, Charles Duyckaerts, Jacqueline Bou, F. Dugny, Thierry Frebourg, Didier Hannequin, Lucie Guyant-Maréchal, I. Le Ber, Dominique Campion, Cécile Dumanchin
Publikováno v:
Neurology. 67:644-651
Background: Hereditary inclusion body myopathy (IBMPFD) with Paget disease of bone (PDB) and frontotemporal dementia (FTD) is a rare multisystem disorder with autosomal dominant inheritance. Recently, missense mutations in the gene encoding valosin-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5640d9fb802b02f0e8f49d126207948
https://doi.org/10.1212/01.wnl.0000225184.14578.d3
https://doi.org/10.1212/01.wnl.0000225184.14578.d3
Autor:
Caroline Demily, A Tillaux, Thierry Frebourg, Michel Petit, Sonia Dollfus, Dominique Campion, Jean-François Ménard, J Lerond, G Raux, C Bellegou, Hélène Jacquet, Gabrielle Allio, Florence Thibaut, Emmanuelle Houy, Pascal Delamillieure, Sadeq Haouzir, Gaël Fouldrin, Jacqueline Bou, Thierry d'Amato, Bernadette Hecketsweiler
Publikováno v:
Molecular Psychiatry. 10:479-485
DNA sequence variations within the 22q11 DiGeorge chromosomal region are likely to confer susceptibility to psychotic disorders. In a previous report, we identified several heterozygous alterations, including a complete deletion, of the proline dehyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7724c0919c5c3dbf3125d6b333d237a
https://doi.org/10.1038/sj.mp.4001597
https://doi.org/10.1038/sj.mp.4001597
Autor:
Rosine Guimbaud, Julie Tinat, Nicolas Piton, Thierry Frebourg, Jacqueline Bou, Stéphanie Baert-Desurmont, Janick Selves
Publikováno v:
American Journal of Medical Genetics Part A. 155:1500-1502
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d68816d9f38445e5fd08c6f8b4f5e5
https://doi.org/10.1002/ajmg.a.34017
https://doi.org/10.1002/ajmg.a.34017