Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer

por Bouras, Ahmed, Leone, Melanie, Bonadona, Valerie, Lebrun, Marine, Calender, Alain, Boutry-Kryza, Nadia
Publicado 2021

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

por Kientz, Caroline, Joly, Marie-Odile, Faivre, Laurence, Clemenson, Alix, Dalac, Sophie, Lepage, Côme, Chapusot, Caroline, Jacquot, Caroline, Schiappa, Renaud, Lebrun, Marine
Publicado 2017

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

por Bouras, Ahmed, Guidara, Souhir, Leone, Mélanie, Buisson, Adrien, Martin-Denavit, Tanguy, Dussart, Sophie, Lasset, Christine, Giraud, Sophie, Bonnet-Dupeyron, Marie-Noëlle, Kherraf, Zine-Eddine, Sanlaville, Damien, Fert-Ferrer, Sandra, Lebrun, Marine, Bonadona, Valerie, Calender, Alain, Boutry-Kryza, Nadia
Publicado 2023

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

por Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2021

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

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

por Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publicado 2016

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B...

por Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo van, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomäki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, Wachenfeldt, von Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per, Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul DP, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C
Publicado 2011