Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Steeve, Fourneaux"'
Autor:
François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counselin
Externí odkaz:
https://doaj.org/article/6d5713aaaa4444979daf4c8e8565c653
Autor:
Alice Moisan, Anaïs Soares, Fabienne De Oliveira, Elodie Alessandri-Gradt, François Lecoquierre, Steeve Fourneaux, Jean-Christophe Plantier, Marie Gueudin
Publikováno v:
Viruses, Vol 15, Iss 5, p 1115 (2023)
Since the end of 2020, multiple severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern (VOCs) have emerged and spread worldwide. Tracking their evolution has been a challenge due to the huge number of positive samples and li
Externí odkaz:
https://doaj.org/article/e586d2f302fe410c87e51e76cbd08438
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:
Emilie Bessenay, Thierry Frebourg, Mariette Renaux-Petel, Steeve Fourneaux, Richard Sesboüé, Gaëlle Bougeard, Stéphanie Vasseur, Stéphanie Baert-Desurmont
Publikováno v:
Familial Cancer
Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩
Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩
International audience; In the Li-Fraumeni syndrome (LFS) resulting from germline TP53 mutations, the MDM2 SNP309G allele has been shown to be associated with an earlier age of tumour onset, however the significance of this association is controversi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128b9607c61cdb05837aa4d575397df0
https://pubmed.ncbi.nlm.nih.gov/23884452
https://pubmed.ncbi.nlm.nih.gov/23884452