תוצאות חיפוש - Moles‐Fernández, Alejandro

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes מאת Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara

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BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge מאת Padilla, Natàlia, Moles-Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier

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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? מאת Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants מאת Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.

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Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects מאת Li, Na, Zethoven, Magnus, McInerny, Simone, Devereux, Lisa, Huang, Yu-Kuan, Thio, Niko, Cheasley, Dane, Gutiérrez-Enríquez, Sara, Moles-Fernández, Alejandro, Diez, Orland, Nguyen-Dumont, Tu, Southey, Melissa C., Hopper, John L., Simard, Jacques, Dumont, Martine, Soucy, Penny, Meindl, Alfons, Schmutzler, Rita, Schmidt, Marjanka K., Adank, Muriel A., Andrulis, Irene L., Hahnen, Eric, Engel, Christoph, Lesueur, Fabienne, Girard, Elodie, Neuhausen, Susan L., Ziv, Elad, Allen, Jamie, Easton, Douglas F., Scott, Rodney J., Gorringe, Kylie L., James, Paul A., Campbell, Ian G.

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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding מאת Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., De Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., van Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.

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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation מאת Castroviejo‐Bermejo, Marta, Cruz, Cristina, Llop‐Guevara, Alba, Gutiérrez‐Enríquez, Sara, Ducy, Mandy, Ibrahim, Yasir Hussein, Gris‐Oliver, Albert, Pellegrino, Benedetta, Bruna, Alejandra, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Bonache, Sandra, Moles‐Fernández, Alejandro, Villacampa, Guillermo, Viaplana, Cristina, Gómez, Patricia, Vidal, Marc, Peg, Vicente, Serres‐Créixams, Xavier, Dellaire, Graham, Simard, Jacques, Nuciforo, Paolo, Rubio, Isabel T, Dientsmann, Rodrigo, Barrett, J Carl, Caldas, Carlos, Baselga, José, Saura, Cristina, Cortés, Javier, Déas, Olivier, Jonkers, Jos, Masson, Jean‐Yves, Cairo, Stefano, Judde, Jean‐Gabriel, O'Connor, Mark J, Díez, Orland, Balmaña, Judith, Serra, Violeta

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Preclinical in vivo validation of the RAD51 test for identification of homologous recombination-deficient tumors and patient stratification מאת Pellegrino, Benedetta, Herencia-Ropero, Andrea, Llop-Guevara, Alba, Pedretti, Flaminia, Moles-Fernández, Alejandro, Viaplana, Cristina, Villacampa, Guillermo, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Jiménez, Jose, Arenas, Enrique J., Degasperi, Andrea, Dias, João M. L., Forment, Josep V., O’Connor, Mark J., Déas, Olivier, Cairo, Stefano, Zhou, Yinghui, Musolino, Antonino, Caldas, Carlos, Nik-Zainal, Serena, Clarke, Robert B., Nuciforo, Paolo, Díez, Orland, Serres-Créixams, Xavier, Peg, Vicente, Espinosa-Bravo, Martín, Macarulla, Teresa, Oaknin, Ana, Mateo, Joaquin, Arribas, Joaquín, Dienstmann, Rodrigo, Bellet, Meritxell, Oliveira, Mafalda, Saura, Cristina, Gutiérrez-Enríquez, Sara, Balmaña, Judith, Serra, Violeta

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

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