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Browsing by Author Vega, Ana

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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
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
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
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
openAccessimproving_deseases_2018.pdf.jpg24-Jul-2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerda, Celia; Merinero, Begoña ; Pérez, Belén artículo
openAccessPérezB_ImprovingTheDiagnosis.pdf.jpg2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén artículo
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
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
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