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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2019
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, 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, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; 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 Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina; Kiechle, Marion; Koelbl, 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; Löffler, Markus; Lopez-Fernandez, Adria; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles-Fernandez, 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; 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, Francoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sanchez de Abajo, Ana Maria; Schmidt, Gunnar; Schönwiese, Ulrike; Seggewiss, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean; Teo, Soo H.; Teule, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Torngren, 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, Angela; 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; Woeckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder-Goss, Christine; Lazaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E. und Spurdle, Amanda B.
(2019):
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
In: Human Mutation, Bd. 40, Nr. 9: S. 1557-1578
2018
Colombo, Mara; Lopez-Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; Vecchi, Giovanna de; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B. Gomez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y.; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K.; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Beeghly-Fadel, Alicia; Benitez, Javier; Böckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang-Claude, Jenny; Conroy, Don M.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Devilee, Peter; Dork, Thilo; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; Garcia-Closas, Montserrat; Giles, Graham G.; Gonzalez-Neira, Anna; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L.; Jakubowska, Anna; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Marchand, Loid le; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L.; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Peterlongo, Paolo; Peto, Julian; Pylkas, Katri; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schömaker, Minouk J.; See, Mee Hoong; Southey, Melissa C.; Swerdlow, Anthony; Teo, Soo H.; Toland, Amanda E.; Tomlinson, Ian; Truong, Therese; Asperen, Christi J. van; Ouweland, Ans M. W. van den; Kolk, Lizet E. van der; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; Dunning, Alison M.; Easton, Douglas F.; Henderson, Alex; Hogervorst, Frans B. L.; Izatt, Louise; Offitt, Kenneth; Side, Lucy E.; Rensburg, Elizabeth J. van; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Goldgar, David E.; Hoya, Miguel de la und Radice, Paolo
(2018):
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
In: Human Mutation, Bd. 39, Nr. 5: S. 729-741