Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

por Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Publicado 2016

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

por Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Publicado 2016

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

por Grandval, Philippe, Fabre, Aurélie J., Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Ferrari, Anthony, Wang, Qing, Béroud, Christophe, Olschwang, Sylviane
Publicado 2013

Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer

por Levacher, Corentin, Viennot, Mathieu, Drouet, Aurélie, Beaussire, Ludivine, Coutant, Sophie, Théry, Jean-Christophe, Baert-Desurmont, Stéphanie, Laé, Marick, Ruminy, Philippe, Houdayer, Claude
Publicado 2023

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

por Olschwang, Sylviane, Yu, Kai, Lasset, Christine, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Wang, Qing, Hutter, Pierre, Rouleau, Etienne, Caron, Olivier, Bourdon, Violaine, Thomas, Gilles
Publicado 2009

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

por von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Publicado 2017

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

por Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry
Publicado 2019

Blood functional assay for rapid clinical interpretation of germline TP53 variants

por Raad, Sabine, Rolain, Marion, Coutant, Sophie, Derambure, Céline, Lanos, Raphael, Charbonnier, Françoise, Bou, Jacqueline, Bouvignies, Emilie, Lienard, Gwendoline, Vasseur, Stéphanie, Farrell, Michael, Ingster, Olivier, Baert Desurmont, Stéphanie, Kasper, Edwige, Bougeard, Gaëlle, Frébourg, Thierry, Tournier, Isabelle
Publicado 2021

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

por Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan C., Spurdle, Amanda B., Houdayer, Claude, Martins, Alexandra, Krieger, Sophie
Publicado 2020

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

por Baert-Desurmont, Stéphanie, Charbonnier, Françoise, Houivet, Estelle, Ippolito, Lorena, Mauillon, Jacques, Bougeard, Marion, Abadie, Caroline, Malka, David, Duffour, Jacqueline, Desseigne, Françoise, Colas, Chrystelle, Pujol, Pascal, Lejeune, Sophie, Dugast, Catherine, Buecher, Bruno, Faivre, Laurence, Leroux, Dominique, Gesta, Paul, Coupier, Isabelle, Guimbaud, Rosine, Berthet, Pascaline, Manouvrier, Sylvie, Cauchin, Estelle, Prieur, Fabienne, Laurent-Puig, Pierre, Lebrun, Marine, Jonveaux, Philippe, Chiesa, Jean, Caron, Olivier, Morin-Meschin, Marie-Emmanuelle, Polycarpe-Osaer, Florence, Giraud, Sophie, Zaanan, Aziz, Bonnet, Delphine, Mansuy, Ludovic, Bonadona, Valérie, El Chehadeh, Salima, Duhoux, François, Gauthier-Villars, Marion, Saurin, Jean-Christophe, Collonge-Rame, Marie- Agnès, Brugières, Laurence, Wang, Qing, Bressac-de Paillerets, Brigitte, Rey, Jean-Marc, Toulas, Christine, Buisine, Marie-Pierre, Bronner, Myriam, Sokolowska, Joanna, Hardouin, Agnès, Cailleux, Anne-Françoise, Sebaoui, Hakim, Blot, Julien, Tinat, Julie, Benichou, Jacques, Frebourg, Thierry
Publicado 2016