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| Rights | Preview | Issue Date | Title | Author(s) | Type |
| openAccess |  | 2020 | A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection | Velázquez Pérez, Carolina; Lastra, Enrique; Avila Cobos, Francisco; Abella Santos, Luis Enrique; Cruz, Virginia de la; Hernando, Blanca Ascensión; Hernández, Lara  ; Martínez, Noemí; Infante, Mar ; Durán, Mercedes | artículo |
| openAccess |  | Mar-2010 | A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients | Sanz, David J.; Acedo, Alberto ; Infante, Mar ; Durán, Mercedes ; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio | artículo |
| closedAccess |  | May-2009 | A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR | Pérez-Cabornero, Lucía ; Velasco, Eladio ; Infante, Mar ; Sanz, David J.; Lastra, Enrique; Hernández, Lara ; Miner, Cristina ; Durán, Mercedes | artículo |
| closedAccess |  | 2019 | A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer | Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva ; Lastra, Enrique; Abella Santos, Luis Enrique; Cruz, Virginia de la; Lobatón, Carmen D.; Durán, Mercedes ; Infante, Mar | artículo |
| closedAccess |  | 3-Apr-2019 | Abordaje De Síndromes Hereditarios no Tipificados de Cáncer Mediante Secuenciación Masiva | Velázquez Pérez, Carolina; Lastra, Enrique; Abella Santos, Luis Enrique; Cruz Palomero, Mª Victoria de la; Hernández, Lara ; Martínez Martín, N. ; Domínguez Lobatón, Mª del Carmen; Infante, Mar ; Durán, Mercedes | póster de congreso |
| openAccess |  | Sep-2011 | Análisis funcional de splicing de variantes de ADN de los genes BRCA1 y BRCA2 mediante minigenes híbridos | Acedo, Alberto ; Sanz, David J.; Durán, Mercedes ; Infante, Mar ; Pérez-Cabornero, Lucía ; Díez-Gómez, Beatriz; Miner, Cristina | comunicación de congreso |
| closedAccess | | Oct-2003 | Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects | Díez, Orland; Osorio, Ana; Durán, Mercedes ; Hoya, Miguel de la; Velasco, Eladio ; Esteban Cardeñosa, Eva ; Miner, Cristina | artículo |
| closedAccess |  | 2018 | Association between germline mutations in BRF1, a subunit of the RNA polymerase III transcription complex, and hereditary colorectal cancer | Bellido, Fernando; Sowada, Nadine; Mur, Pilar; Lázaro, Conxi; Pons, Tirso ; Valdés-Mas, Rafael; Pineda, Marta; Aiza, Gemma; Iglesias, Silvia; Soto, José Luis; Urioste, Miguel; Caldés, Trinidad; Balbín, Milagros; Blay, Pilar; Rueda, Daniel; Durán, Mercedes ; Valencia, Alfonso; Moreno, Victor; Brunet, Joan; Blanco, Ignacio; Navarro, Matilde; Calin, George G.; Borck, Guntram; Puente, Xose S.; Capellá, Gabriel; Valle, Laura | artículo |
| openAccess |  | 2015 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | Rebbeck, Timothy R.; Osorio, Ana; Benitez, Javier; Tejada, María Isabel; Durán, Mercedes ; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio | artículo |
| openAccess |  | Jan-2010 | BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin | Infante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Pérez-Cabornero, Lucía ; Sanz, David J.; Tejada, María Isabel; Miner, Cristina ; Velasco, Eladio | artículo |
| 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 ; Díez, Orland; Vega, Ana; Durán, Mercedes ; Benitez, Javier; Bolufer, Pascual | artículo |
| closedAccess |  | 2017 | Caracterización clínica y molecular de familias con poliposis atenuada familiar (PAF). Defectos en genes de ruta BER. Correlación genotipo-fenotipo | Tascón, Mónica; Esteban Cardeñosa, Eva ; Infante, Mar ; Velázquez Pérez, Carolina; Lastra, Enrique; Abella Santos, Luis Enrique; Martínez Martín, N. ; Hernández, Lara ; Durán, Mercedes | comunicación de congreso |
| closedAccess |  | 3-Apr-2019 | Caracterización de variantes de Splicing en RNA de Pacientes con Cáncer Hereditario no tipificado | Velázquez Pérez, Carolina; Lastra, Enrique; Abella Santos, Luis Enrique; Cruz, Virginia de la; Hernández, Lara ; Martínez, Noemy; Lobatón, Carmen D.; Durán, Mercedes ; Infante, Mar | póster de congreso |
| closedAccess |  | 2015 | Caracterización funcional de mutaciones reguladoras en el promotor de BRCA2 en
cáncer de mama y ovario hereditario | Díez-Gómez, Beatriz; Fraile-Bethencourt, Eugenia; Infante, Mar ; Durán, Mercedes ; Velasco, Eladio | comunicación de congreso |
| openAccess |  | 2011 | Cell- and gene-therapy approaches to inner ear repair | Conde de Felipe, Magnolia; Feijoo-Redondo, Ana; García-Sancho, Javier ; Schimmang, Thomas ; Durán, Mercedes | artículo |
| openAccess |  | 2011 | Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a lynch syndrome phenotype | Pérez-Cabornero, Lucía ; Borràs, Ester; Infante, Mar ; Velasco, Eladio ; Acedo, Alberto ; Durán, Mercedes | 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; 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, Sara | artículo |
| openAccess |  | 2011 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 | Mulligan, Anna M.; Durán, Mercedes | artículo |
| openAccess |  | 2012 | Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | Couch, Fergus J.; Gaudet, Mia M.; Durán, Mercedes ; Tejada, María Isabel; Offit, Kenneth; Simard, Jacques | artículo |
| openAccess |  | 2012 | Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes | Acedo, Alberto ; Sanz, David J.; Durán, Mercedes ; Infante, Mar ; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio | artículo |
