Mostrando resultados 5 a 15 de 15
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2015 | BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study | Juan, Inmaculada de; Osorio, Ana; Hoya, Miguel de la; Infante, Mar CSIC ORCID; Díez, Orland; Vega, Ana; Durán, Mercedes CSIC ORCID; Benitez, Javier; Bolufer, Pascual | artículo |
| openAccess |  | 2014 | Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants | Acedo, Alberto CSIC ORCID; Gutiérrez-Enríquez, Sara; Díez, Orland; Velasco, Eladio CSIC ORCID ; Hoya, Miguel de la | artículo |
| openAccess |  | 2018 | Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study | Montalban, Gemma; Fraile-Bethencourt, Eugenia CSIC ORCID; Lopez Periolo, Irene; Pérez-Segura, Pedro; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Díez, Orland; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Gutiérrez-Enríquez, Sara | artículo |
| openAccess |  | 6-mar-2018 | Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 | Hernández, Gonzalo; Ramírez, María José; Minguillón, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza Carmona, Miriam CSIC; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario CSIC; Fernández, Juana CSIC; García, Nadia; López, Adrià; Gutiérrez-Enríquez, Sara; Díez, Orland; Benitez, Javier; Salinas, Mónica; Teulé, Alex; Brunet, Joan; Radice, Paolo; Peterlongo, Paolo; Schindler, Detlev; Huertas Sánchez, Pablo CSIC ORCID; Puente, Xose S.; Lázaro, Conxi; Pujana, Miguel Ángel; Surrallés, Jordi | artículo |
| openAccess |  | 2012 | Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer | Blanco, Ana; Hoya, Miguel de la; Esteban Cardeñosa, Eva CSIC; Infante, Mar CSIC ORCID; Tejada, María Isabel; Osorio, Ana; Velasco, Eladio CSIC ORCID ; Díez, Orland; Vega, Ana | artículo |
| closedAccess |  | 2013 | Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles | Osorio, Ana; Fernández, Victoria CSIC ORCID; Hoya, Miguel de la; Caldés, Trinidad; Vega, Ana; Díez, Orland; Fernández, Daniel; González-Sarmiento, Rogelio CSIC ORCID ; Durán, Mercedes CSIC ORCID; Fernández-Piqueras, José CSIC ORCID; Benítez, Javier | artículo |
| openAccess |  | 2020 | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia | Asis Tuazon, Anna Marie de; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Estrada-Florez, Ana; Mateus, Gilbert; Velez, Alejandro; Carmona, Jenny; Olaya, Justo; Garcia, Elisha; Polanco-Echeverry, Guadalupe; Stultz, Jacob; Alvarez, Carolina; Tapia, Teresa; Ashton-Prolla, Patricia; Vega, Ana; Lázaro, Conxi; Tornero, Eva; Martínez-Bouzaz, Cristina; Infante, Mar CSIC ORCID; Hoya, Miguel de la; Díez, Orland; Browning, Brian L.; Teixeira, Manuel R.; Carvallo, Pilar; Echeverry, Magdalena; Carvajal-Carmona, Luis | artículo |
| openAccess |  | 2015 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes CSIC ORCID; Tejada, María Isabel | artículo |
| openAccess |  | 2018 | Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations | Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo-Hwamg; Thomassen, Mads; Mebirouk, Noura; Meijers-Heijboer, Hanne; Meindl, Alfons; Mensenkamp, Arjen R.; Kruse, Torben A.; Benitez, Javier; Mickys, Ugnius; Greene, Mark H.; Miller, Austin; thomas, Abigail; Cook, Jackie; Montagna, Marco; Moysich, Kirsten B.; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L.; Nevanlinna, Heli; Ngeow, Joanne; Berger, Andreas; Nguyen, Huu Phuc; Palmero, Edenir Inêz; Davidson, Rosemarie; Bonadona, Valérie; Schmutzler, Rita Katharina; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L.; Offit, Kenneth; Öfverholm, Anna; Ong, Kai-ren; Berger, Raanan; Hoya, Miguel de la; Osorio, Ana; Konstantopoulou, Irene; Papi, Laura; Papp, Janos; Senter, Leigha; Kyung Park, Sue; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Leeneer, Kim de; Peterlongo, Paolo; Blanco, Amie M.; Thull, Darcy L.; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Shah, Payal D.; Pujol, Pascal; Torres, Diana; Pauw, Antoine de; Radice, Paolo; Sharma, Priyanka; Side, Lucy E.; Tischkowitz, Marc; Blazer, Kathleen R.; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Slavin, Thomas P.; Snape, Katie; Rashid, Muhammad Usman; Gronwald, Jacek; McGuffog, Lesley; Sobol, Hagay; Southey, Melissa; Tognazzo, Silvia; Steele, Linda; Blok, Marinus J.; Steinemann, Doris; Toland, Amanda Ewart; Topka, Sabine; Delnatte, Capucine; Trainer, Alison H.; Tung, Nadine; Hahnen, Eric; Asperen, Christi J. van; Hout, Annemieke H. van der; Korach, Jacob; Hogervorst, Frans B. L.; Leslie, Goska; Kolk, Lizet E. van der; Luijt, Rob B. van der; Weitzel, Jeffrey N.; Heetvelde, Mattias van; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Villarreal-Garza, Cynthia; Hauke, Jan; Laitman, Yael; Wachenfeldt, Anna von; Ramus, Susan J.; Walker, Lisa; Díez, Orland; Wang-Gohrke, Shan; Aalfs, Cora M.; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Lasa, Adrian; Zidan, Jamal; HEBON; Lee, Min Hyuk; Bonanni, Bernardo; Zorn, Kristin K.; Selkirk, Christina G. Hutten; Hulick, Peter J.; Chenevix-Trench, Georgia; Abugattas, Julio; Spurdle, Amanda B.; Antoniou, Antonis C.; Lasset, Christine; Nathanson, Katherine L.; Sukiennicki, Grzegorz; Adlard, Julian; Agata, Simona; Bradbury, Angela R.; Henderson, Alex; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Couch, Fergus J.; Ding, Yuan Chun; Arun, Branu K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Brewer, Carole; Balmaña, Judith; Hentschel, Julia; Barile, Monica; Buecher, Bruno; Buys, Saundra S.; Ditsch, Nina; Lázaro, Conxi; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campbell, Ian; Caputo, Sandrine M.; Rantala, Johanna; Honisch, Ellen; Chiquette, Jocelyne; Chung, Wendy K.; Domchek, Susan M.; Claes, Kathleen B.; Lee, Annette T.; Collée, J. Margriet; Evans, D. Gareth; Dorfling, Cecilia M.; Velázquez Pérez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Rhiem, Kerstin; Easton, Douglas F.; Eeles, Ros; Sutter, Christian; Schmidt, Ane Y.; Imyanitov, Evgeny N.; Ehrencrona, Hans; Ejlertsen, Bent; EMBRACE; Engel, Christoph; Engert, Stefanie; Faivre, Laurence; Feliubadaló, Lidia; Robson, Mark; szabo, Csilla I., Tan, Yen Y.; Fert Ferrer, Sandra; Barkardottir, Rosa B.; Foretova, Lenka; Fowler, Jeffrey; Isaacs, Claudine; Frost, Debra; Galvão, Henrique C. R.; Ganz, Patricia A.; Garber, Judy; Gauthier-Villars, Marion; Teixeira, Manuel R.; Gehrig, Andrea; Rodriguez, Gustavo C.; Lester, Jenny; GEMO Study Collaborators; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Izat, Louise; Giraud, Sophie; Glendon, Gord; Terry, Mary Beth; Godwin, Andrew K.; Izquierdo, Angel; Jakubowska, Anna; Lesueur, Fabienne; Rogers, Mark T.; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Vijai, Joseph; Gutierrez-Barrera, Angelica; Chan, T. L.; Kaczmarek, Katarzyna; Karlan, Beth Y.; Kast, Karin; Liljegren, Annelie; KConFab Investigators; Rudaitis, Vilius; Kim, Sung-Won; Lindor, Noralane M.; Longy, Michel; Teulé, Alex; Loud, Jennifer T.; Lu, Karen H.; Goldgar, David E.; Lubinski, Jan; Machackova, Eva; Barrowdale, Daniel; Rensburg, Elizabeth J. van; Manoukian, Siranoush; Mari, Véronique; Martínez-Bouzaz, Cristina; Parsons, Michael T.; Matrai, Zoltan | artículo |
| openAccess |  | 2013 | The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins | Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Acedo, Alberto CSIC ORCID; Sánchez-Tapia, E. M.; Díez-Gómez, Beatriz CSIC; Hoya, Miguel de la; Esteban Cardeñosa, Eva CSIC; Díez, Orland; Osorio, Ana; Lastra, Enrique; González-Sarmiento, Rogelio CSIC ORCID ; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID | artículo |
| closedAccess |  | 2015 | Transcontinental characterization of the Hispanic BRCA1 3450del4 breast cancer founder mutation | Asis Tuazon, Anna Marie de; Vega, Ana; Infante, Mar CSIC ORCID; Hoya, Miguel de la; Díez, Orland; Carvajal-Carmona, Luis | póster de congreso |
