Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor von Clatot, Florian, Perdrix, Anne, Augusto, Laetitia, Beaussire, Ludivine, Delacour, Julien, Calbrix, Céline, Sefrioui, David, Viailly, Pierre-Julien, Bubenheim, Michael, Moldovan, Cristian, Alexandru, Cristina, Tennevet, Isabelle, Rigal, Olivier, Guillemet, Cécile, Leheurteur, Marianne, Gouérant, Sophie, Petrau, Camille, Théry, Jean-Christophe, Picquenot, Jean-Michel, Veyret, Corinne, Frébourg, Thierry, Jardin, Fabrice, Sarafan-Vasseur, Nasrin, Di Fiore, Frédéric

Volltext

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification von NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

Volltext

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing von Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie

Volltext

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents von Bodo, Sahra, Colas, Chrystelle, Buhard, Olivier, Collura, Ada, Tinat, Julie, Lavoine, Noémie, Guilloux, Agathe, Chalastanis, Alexandra, Lafitte, Philippe, Coulet, Florence, Buisine, Marie-Pierre, Ilencikova, Denisa, Ruiz-Ponte, Clara, Kinzel, Miriam, Grandjouan, Sophie, Brems, Hilde, Lejeune, Sophie, Blanché, Hélène, Wang, Qing, Caron, Olivier, Cabaret, Odile, Svrcek, Magali, Vidaud, Dominique, Parfait, Béatrice, Verloes, Alain, Knappe, Ulrich J, Soubrier, Florent, Mortemousque, Isabelle, Leis, Alexander, Auclair-Perrossier, Jessie, Frébourg, Thierry, Fléjou, Jean-François, Entz-Werle, Natacha, Leclerc, Julie, Malka, David, Cohen-Haguenauer, Odile, Goldberg, Yael, Gerdes, Anne-Marie, Fedhila, Faten, Mathieu-Dramard, Michèle, Hamelin, Richard, Wafaa, Badre, Gauthier-Villars, Marion, Bourdeaut, Franck, Sheridan, Eamonn, Vasen, Hans, Brugières, Laurence, Wimmer, Katharina, Muleris, Martine, Duval, Alex

Volltext

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System von Tubeuf, Helene, Caputo, Sandrine M., Sullivan, Teresa, Rondeaux, Julie, Krieger, Sophie, Caux-Moncoutier, Virginie, Hauchard, Julie, Castelain, Gaia, Fievet, Alice, Meulemans, Laetitia, Revillion, Francoise, Leone, Melanie, Boutry-Kryza, Nadia, Delnatte, Capucine, Guillaud-Bataille, Marine, Cleveland, Linda, Reid, Susan, Southon, Eileen, Soukarieh, Omar, Drouet, Aurelie, Di Giacomo, Daniela, Vezain, Myriam, Bonnet-Dorion, Francoise, Bourdon, Violaine, Larbre, Helene, Muller, Daniele, Pujol, Pascal, Vaz, Fatima, Audebert-Bellanger, Severine, Colas, Chrystelle, Venat-Bouvet, Laurence, Solano, Angela R., Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Gaildrat, Pascaline, Sharan, Shyam K., Martins, Alexandra

Volltext

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases von Tessier, Aude, Sarreau, Mélie, Pelluard, Fanny, André, Gwenaelle, Blesson, Sophie, Bucourt, Martine, Dechelotte, Pierre, Faivre, Laurence, Frébourg, Thierry, Goldenberg, Alice, Goua, Valérie, Jeanne-Pasquier, Corinne, Guimiot, Fabien, Laquerriere, Annie, Laurent, Nicole, Lefebvre, Mathilde, Loget, Philippe, Maréchaud, Martine, Mechler, Charlotte, Perez, Marie-Josée, Sabourin, Jean Christophe, Verloes, Alain, Patrier, Sophie, Guerrot, Anne-Marie

Volltext

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 von Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Guerrot, Anne-Marie, Genevieve, David, Lecoquierre, Francois, Jacquette, Aurélia, Khau Van Kien, Philippe, Leheup, Bruno, Marlin, Sandrine, Verloes, Alain, Michaud, Vincent, Nadeau, Gwenael, Mignot, Cyril, Parent, Philippe, Rossi, Massimiliano, Toutain, Annick, Schaefer, Elise, Thauvin-Robinet, Christel, Van Maldergem, Lionel, Thevenon, Julien, Satre, Véronique, Perrin, Laurence, Vincent-Delorme, Catherine, Sorlin, Arthur, Missirian, Chantal, Villard, Laurent, Mancini, Julien, Saugier-Veber, Pascale, Philip, Nicole

Volltext

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers von Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R, Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry

Volltext

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools von Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra

Volltext

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood von Tabori, Uri, Hansford, Jordan R, Achatz, Maria Isabel, Kratz, Christian P, Plon, Sharon E, Frebourg, Thierry, Brugières, Laurence

Volltext

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes von Castéra, Laurent, Krieger, Sophie, Rousselin, Antoine, Legros, Angélina, Baumann, Jean-Jacques, Bruet, Olivia, Brault, Baptiste, Fouillet, Robin, Goardon, Nicolas, Letac, Olivier, Baert-Desurmont, Stéphanie, Tinat, Julie, Bera, Odile, Dugast, Catherine, Berthet, Pascaline, Polycarpe, Florence, Layet, Valérie, Hardouin, Agnes, Frébourg, Thierry, Vaur, Dominique

Volltext

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools von Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra

Volltext

Prognostic value of KRAS genotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of... von Bruera, Gemma, Cannita, Katia, Di Giacomo, Daniela, Lamy, Aude, Troncone, Giancarlo, Dal Mas, Antonella, Coletti, Gino, Frébourg, Thierry, Sabourin, Jean Christophe, Tosi, Mario, Ficorella, Corrado, Ricevuto, Enrico

Volltext

Impact of FcγRIIa-FcγRIIIa Polymorphisms and KRAS Mutations on the Clinical Outcome of Patients With Metastatic Colorectal Cancer Treated With Cetuximab Plus Irinotecan von BIBEAU, Frédéric, LOPEZ-CRAPEZ, Evelyne, SABOURIN, Jean-Christophe, BOISSIERE-MICHOT, Florence, DI FIORE, Frédénc, THEZENAS, Simon, YCHOU, Marc, BLANCHARD, France, LAMY, Aude, PENAULT-LLORCA, Frédérique, FREBOURG, Thierry, MICHEL, Pierre

Volltext

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients von Grotto, Sarah, Cuisset, Jean-Marie, Marret, Stéphane, Drunat, Séverine, Faure, Patricia, Audebert-Bellanger, Séverine, Desguerre, Isabelle, Flurin, Vincent, Grebille, Anne-Gaëlle, Guerrot, Anne-Marie, Journel, Hubert, Morin, Gilles, Plessis, Ghislaine, Renolleau, Sylvain, Roume, Joëlle, Simon-Bouy, Brigitte, Touraine, Renaud, Willems, Marjolaine, Frébourg, Thierry, Verspyck, Eric, Saugier-Veber, Pascale

Volltext

2009 version of the Chompret criteria for Li Fraumeni syndrome von Tinat, Julie, Bougeard, Gaelle, Baert-Desurmont, Stéphanie, Vasseur, Stéphanie, Martin, Cosette, Bouvignies, Emilie, Caron, Olivier, Bressac-de Paillerets, Brigitte, Berthet, Pascaline, Dugast, Catherine, Bonaïti-Pellié, Catherine, Stoppa-Lyonnet, Dominique, Frébourg, Thierry

Volltext

Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants von Gaildrat, Pascaline, Killian, Audrey, Martins, Alexandra, Tournier, Isabelle, Frébourg, Thierry, Tosi, Mario

Volltext

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families von Castéra, Laurent, Harter, Valentin, Muller, Etienne, Krieger, Sophie, Goardon, Nicolas, Ricou, Agathe, Rousselin, Antoine, Paimparay, Germain, Legros, Angelina, Bruet, Olivia, Quesnelle, Céline, Domin, Florian, San, Chankannira, Brault, Baptiste, Fouillet, Robin, Abadie, Caroline, Béra, Odile, Berthet, Pascaline, Frébourg, Thierry, Vaur, Dominique

Volltext

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies von Miguel, Laetitia, Frébourg, Thierry, Campion, Dominique, Lecourtois, Magalie

Volltext

Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability von KILLIAN, Audrey, LE MEUR, Nathalie, SESBOÜE, Richard, BOURGUIGNON, Jeannette, BOUGEARD, Gaëlle, GAUTHEROT, Julien, BASTARD, Christian, FREBOURG, Thierry, FLAMAN, Jean-Michel

Volltext