An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

por Muller, Danièle, Rouleau, Etienne, Schultz, Inès, Caputo, Sandrine, Lefol, Cédrick, Bièche, Ivan, Caron, Olivier, Noguès, Catherine, Limacher, Jean Marc, Demange, Liliane, Lidereau, Rosette, Fricker, Jean Pierre, Abecassis, Joseph
Publicado 2011

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

por Caputo, Sandrine M., Telly, Dominique, Briaux, Adrien, Sesen, Julie, Ceppi, Maurizio, Bonnet, Françoise, Bourdon, Violaine, Coulet, Florence, Castera, Laurent, Delnatte, Capucine, Hardouin, Agnès, Mazoyer, Sylvie, Schultz, Inès, Sevenet, Nicolas, Uhrhammer, Nancy, Bonnet, Céline, Tilkin-Mariamé, Anne-Françoise, Houdayer, Claude, Moncoutier, Virginie, Andrieu, Catherine, Bièche, Ivan, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Lidereau, Rosette, Toulas, Christine, Rouleau, Etienne
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