Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

por Demuth, Ilja, Krebs, Simon K., Dutrannoy, Véronique, Linke, Christian, Krobitsch, Sylvia, Varon, Raymonda, Lang, Christine, Raab, Andreas, Sperling, Karl, Digweed, Martin
Publicado 2018

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

por Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, André, Sperling, Karl, Nothnagel, Michael
Publicado 2016

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

por Trimborn, Marc, Ghani, Mahdi, Walther, Diego J., Dopatka, Monika, Dutrannoy, Véronique, Busche, Andreas, Meyer, Franziska, Nowak, Stefanie, Nowak, Jean, Zabel, Claus, Klose, Joachim, Esquitino, Veronica, Garshasbi, Masoud, Kuss, Andreas W., Ropers, Hans-Hilger, Mueller, Susanne, Poehlmann, Charlotte, Gavvovidis, Ioannis, Schindler, Detlev, Sperling, Karl, Neitzel, Heidemarie
Publicado 2010

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

por Borde, Julika, Laitman, Yael, Blümcke, Britta, Niederacher, Dieter, Weber-Lassalle, Konstantin, Sutter, Christian, Rump, Andreas, Arnold, Norbert, Wang-Gohrke, Shan, Horváth, Judit, Gehrig, Andrea, Schmidt, Gunnar, Dutrannoy, Véronique, Ramser, Juliane, Hentschel, Julia, Meindl, Alfons, Schroeder, Christopher, Wappenschmidt, Barbara, Engel, Christoph, Kuchenbaecker, Karoline, Schmutzler, Rita K., Friedman, Eitan, Hahnen, Eric, Ernst, Corinna
Publicado 2022

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

por Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
Publicado 2019