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Browsing by Author Hoya, Miguel de la

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Showing results 1 to 19 of 19
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2014About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantsGutiérrez-Enríquez, Sara; Osorio, Ana; Esteban Cardeñosa, Eva ; Blanco, Ana; Infante, Mar ; Vega, Ana; Benitez, Javier; Hoya, Miguel de la; Díez, Orlandartículo
openAccessalternarepor.pdf.jpg2019Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reporLopez Periolo, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F.; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S.; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; KConFab Investigators; Valenzuela-Palomo, Alberto; Velasco, Eladio ; Southey, Melissa; Vreeswijk, Maaike P. G.; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B.; Walker, Logan C.; Krieger, Sophie; Hoya, Miguel de laartículo
closedAccessOct-2003Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effectsDíez, Orland; Osorio, Ana; Durán, Mercedes ; Hoya, Miguel de la; Velasco, Eladio ; Esteban Cardeñosa, Eva ; Miner, Cristina artículo
openAccessAnalysis of PALB2.pdf.jpg2013Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesBlanco, Ana; Hoya, Miguel de la; Osorio, Ana; Díez, Orland; Infante, Mar ; Tejada, María Isabel; Velasco, Eladio ; Benitez, Javier; Vega, Anaartículo
openAccessAnalysis of PALB2.pdf.jpg2010Analysis of PALB2 gene in Spanish hereditary breast ovarian cancer families with male breast cancer, without BRCA1 or BRCA2 mutationsBlanco, Ana; Hoya, Miguel de la; Infante, Mar ; Velasco, Eladio póster de congreso
openAccessBRCA1BRCA2 .pdf.jpg2015Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancerRebbeck, Timothy R.; Osorio, Ana; Benitez, Javier; Tejada, María Isabel; Durán, Mercedes ; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacioartículo
closedAccessaccesoRestringido.pdf.jpg2015BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter studyJuan, Inmaculada de; Osorio, Ana; Hoya, Miguel de la; Infante, Mar ; Díez, Orland; Vega, Ana; Durán, Mercedes ; Benitez, Javier; Bolufer, Pascualartículo
openAccessBRCA2geneticvariants.pdf.jpg2014Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variantsAcedo, Alberto ; Gutiérrez-Enríquez, Sara; Díez, Orland; Velasco, Eladio ; Hoya, Miguel de laartículo
openAccesscharacteristud.pdf.jpg2018Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case studyMontalban, Gemma; Fraile-Bethencourt, Eugenia; Lopez Periolo, Irene; Pérez-Segura, Pedro; Infante, Mar ; Durán, Mercedes ; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Díez, Orland; Hoya, Miguel de la; Velasco, Eladio ; Gutiérrez-Enríquez, Saraartículo
openAccessDetection of a large rearrangement.pdf.jpg2012Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancerBlanco, Ana; Hoya, Miguel de la; Esteban Cardeñosa, Eva ; Infante, Mar ; Tejada, María Isabel; Osorio, Ana; Velasco, Eladio ; Díez, Orland; Vega, Anaartículo
closedAccessaccesoRestringido.pdf.jpg2013Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility AllelesOsorio, Ana; Fernández, Victoria ; Hoya, Miguel de la; Caldés, Trinidad; Vega, Ana; Díez, Orland; Fernández, Daniel; González-Sarmiento, Rogelio  ; Durán, Mercedes ; Fernández-Piqueras, José ; Benítez, Javierartículo
openAccessGenomic Rearrangementsl.pdf.jpgAug-2006Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancerHoya, Miguel de la; Velasco, Eladio ; Osorio, Ana; Esteban Cardeñosa, Eva ; Miner, Cristina artículo
openAccessepithelialovariancancer.pdf.jpg2015Identification of six new susceptibility loci for invasive epithelial ovarian cancerKuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes ; Tejada, María Isabelartículo
closedAccessaccesoRestringido.pdf.jpg2014Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancersZugazagoitia, Jon; Vega, Ana; González-Sarmiento, Rogelio  ; Cruz, Juan Jesús; Hoya, Miguel de laartículo
openAccessmutati1or2.pdf.jpg2018Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsRebbeck, 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; Sukiennicki, Grzegorz; Sutter, Christian; szabo, Csilla I., Tan, Yen Y.; Teixeira, Manuel R.; Terry, Mary Beth; Gutierrez-Barrera, Angelica; Teulé, Alex; Parsons, Michael T.; thomas, Abigail; Bonadona, Valérie; Konstantopoulou, Irene; Thull, Darcy L.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; 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; 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; Wang-Gohrke, Shan; Aalfs, Cora M.; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Lasa, Adrian; Zidan, Jamal; HEBON; 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.; Adlard, Julian; Agata, Simona; Bradbury, Angela R.; Henderson, Alex; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Couch, Fergus J.; Arun, Branu K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Brewer, Carole; Balmaña, Judith; Hentschel, Julia; Barile, Monica; Buecher, Bruno; Buys, Saundra S.; Lázaro, Conxi; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campbell, Ian; Caputo, Sandrine M.; Rantala, Johanna; Honisch, Ellen; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B. M.; Lee, Annette; Collée, J. Margriet; Cook, Jackie; Davidson, Rosemarie; Hoya, Miguel de la; Leeneer, Kim de; Pauw, Antoine de; Rashid, Muhammad Usman; Delnatte, Capucine; Weitzel, Jeffrey N.; Díez, Orland; Lee, Min Hyuk; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M.; Dorfling, Cecilia M.; Velázquez Pérez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Rhiem, Kerstin; Easton, Douglas F.; Eeles, Ros; Schmidt, Ane Y.; Imyanitov, Evgeny N.; Ehrencrona, Hans; Ejlertsen, Bent; EMBRACE; Engel, Christoph; Engert, Stefanie, Evans, D. Gareth; Faivre, Laurence; Feliubadaló, Lidia; Robson, Mark; 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; Gehrig, Andrea; Rodriguez, Gustavo C.; Lester, Jenny; GEMO Study Collaborators; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Izat, Louise; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Izquierdo, Angel; Jakubowska, Anna; Lesueur, Fabienne; Rogers, Mark T.; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Vijai, Joseph; Chan, T. L.; Kaczmarek, Katarzyna; Karlan, Beth Y.; Kast, Karin; Liljegren, Annelie; KConFab Investigators; Rudaitis, Vilius; Kim, Sung-Won; Lindor, Noralane M.; Longy, Michel; 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; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E. J.; Meindl, Alfons; Mensenkamp, Arjen R.; Kruse, Torben A.; Benitez, Javier; Mickys, Ugnius; Greene, Mark H.; Miller, Austin; 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; Schmutzler, Rita Katharina; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L.; Offit, Kenneth; Öfverholm, Anna; Ong, Kai-ren; Berger, Raanan; Osorio, Ana; Papi, Laura; Papp, Janos; Senter, Leigha; Kyung Park, Sue; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Blanco, Amie M.; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Shah, Payal D.; Pujol, Pascal; Torres, Diana; Radice, Paolo; Sharma, Priyanka; Side, Lucy E.; Blazer, Kathleen R.; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Slavin, Thomas P.; Snape, Katie; Gronwald, Jacek; McGuffog, Lesley; Sobol, Hagay; Southey, Melissa; Steele, Linda; Blok, Marinus J.; Steinemann, Dorisartículo
closedAccessaccesoRestringido.pdf.jpg2012Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic casesMartinez-Delgado, B.; Hoya, Miguel de la; Caldés, Trinidad; Vega, Ana; Blanco, Ángela; González-Sarmiento, Rogelio  ; Benítez, Javierartículo
openAccesshighly prevalent BRCA2.pdf.jpg2013The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple originsInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Sánchez-Tapia, E. M.; Díez-Gómez, Beatriz; Hoya, Miguel de la; Esteban Cardeñosa, Eva ; Díez, Orland; Osorio, Ana; Lastra, Enrique; González-Sarmiento, Rogelio  ; Miner, Cristina ; Velasco, Eladio artículo
closedAccessaccesoRestringido.pdf.jpg2015Transcontinental characterization of the Hispanic BRCA1 3450del4 breast cancer founder mutationAsis Tuazon, Anna Marie de; Vega, Ana; Infante, Mar ; Hoya, Miguel de la; Díez, Orland; Carvajal-Carmona, Luispóster de congreso
openAccessBRCA2 Familial Breast.pdf.jpg2013Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility allelesGracia-Aznarez, Francisco Javier; Hoya, Miguel de la; Durán, Mercedes ; Osorio, Ana; Benitez, Javierartículo