Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Stephanie Baert-Desurmont"'
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:
Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, BPP, Branchpointer,
Externí odkaz:
https://doaj.org/article/da6b4502084e4b2a87009788da78c331
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:
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert-Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins
Publikováno v:
PLoS Genetics, Vol 12, Iss 4, p e1005971 (2016)
Externí odkaz:
https://doaj.org/article/f8225fa7a21643beb504a37a145a5344
Autor:
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert-Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005756 (2016)
The identification of a causal mutation is essential for molecular diagnosis and clinical management of many genetic disorders. However, even if next-generation exome sequencing has greatly improved the detection of nucleotide changes, the biological
Externí odkaz:
https://doaj.org/article/2c7a2f08d3e643fb984542ba39d45f50
Autor:
Sylviane Olschwang, Kai Yu, Christine Lasset, Stéphanie Baert-Desurmont, Marie-Pierre Buisine, Qing Wang, Pierre Hutter, Etienne Rouleau, Olivier Caron, Violaine Bourdon, Gilles Thomas
Publikováno v:
Journal of Cancer Epidemiology, Vol 2009 (2009)
Lynch syndrome is mostly characterized by early-onset colorectal and endometrial adenocarcinomas. Over 90% of the causal mutations occur in two mismatch repair genes, MSH2 and MLH1. The aim of this study was to evaluate the age-dependent cancer risk
Externí odkaz:
https://doaj.org/article/5e0f1bef701642f89e129fe61fa8440e