Mostrando resultados 59 a 75 de 75
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | sep-2022 | Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants | Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Esteban-Sánchez, Ada; Lorca, Víctor; Llinares-Burguet, Inés CSIC ORCID CVN; Allen, Jamie; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Durán, Mercedes CSIC ORCID; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | jul-2023 | Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases | Arranz-Ledo, Mónica; Lastra, Enrique; Abella Santos, Luis Enrique; Ferreira, Raquel; Orozco, Marta; Hernández, Lara CSIC ORCID; Martínez, Noemí CSIC ORCID; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID | artículo |
| openAccess | | 19-dic-2023 | Multiomics insights on the onset, progression, and metastatic evolution of breast cancer | Álvarez-Frutos, Lucía; Barriuso, Daniel; Durán, Mercedes CSIC ORCID; Infante, Mar CSIC ORCID; Kroemer, Guido; Palacios-Ramírez, Roberto; Senovilla, Laura CSIC ORCID CVN | artículo de revisión |
| openAccess |  | 2017 | Una mutación missense de BRIP1 altera el splicing y provoca la exclusión del exón anterior. Implicaciones en el consejo genético al paciente | Velázquez Pérez, Carolina; Durán, Mercedes CSIC ORCID; Esteban Cardeñosa, Eva CSIC; Abella Santos, Luis Enrique; Hernández, Lara CSIC ORCID; Martínez Martín, N.; Infante, Mar CSIC ORCID | comunicación de congreso |
| closedAccess |  | 2015 | Mutaciones en RAD51D en familias con cáncer de mama y ovario en la zona Este de Castilla y León | Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva CSIC; Durán, Mercedes CSIC ORCID; Tascón, Mónica; Lastra, Enrique; Marcos García, G.; Hernández, Lara CSIC ORCID; Martínez Martín, N.; Infante, Mar CSIC ORCID | comunicación de congreso |
| closedAccess | | abr-2003 | Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations | Durán, Mercedes CSIC ORCID; Esteban Cardeñosa, Eva CSIC; Velasco, Eladio CSIC ORCID ; Infante, Mar CSIC ORCID; Miner, Cristina CSIC | artículo |
| closedAccess |  | 2013 | New splicing vector pSAD: Splicing functional analysis of a hybrid "maxi-minigene" with exons 19 to 27 of BRCA2 | Acedo, Alberto CSIC ORCID; Díez-Gómez, Beatriz CSIC; Curiel-García, Álvaro; Hernández-Moro, Cristina; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
| openAccess |  | 2016 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer | Hollestelle, Antoinette; Berchuck, Andrew; Durán, Mercedes CSIC ORCID | artículo |
| openAccess |  | ene-2010 | Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers | Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | artículo |
| closedAccess | | jul-2005 | Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis | Velasco, Eladio CSIC ORCID ; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Esteban Cardeñosa, Eva CSIC; Lastra, Enrique; García-Girón, Carlos; Miner, Cristina CSIC | artículo |
| closedAccess |  | 2013 | Splicing functional assays of a BRCA1 minigene with exons 15-19 | Hernández-Moro, Cristina; Curiel-García, Álvaro; Díez-Gómez, Beatriz CSIC; Acedo, Alberto CSIC ORCID; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
| closedAccess |  | 2012 | Splicing functional assays of a single minigene with eight exons of the BRCA2 gene | Acedo, Alberto CSIC ORCID; Díez-Gómez, Beatriz CSIC; Curiel-García, Álvaro; Hernández-Moro, Cristina; Infante, Mar CSIC ORCID; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
| closedAccess | | may-2008 | The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain | Milne, Roger L.; Blanco, Ana; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID ; Esteban Cardeñosa, Eva CSIC; Tejada, María Isabel | 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 |
| openAccess |  | jul-2010 | Two founder BRCA2 mutations predispose to breast cancer in young women | Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID | artículo |
| closedAccess |  | 2019 | Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer | Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva CSIC; Lastra, Enrique; Abella Santos, Luis Enrique; Cruz, Virginia de la; Lobatón, Carmen D.; Durán, Mercedes CSIC ORCID; Infante, Mar CSIC ORCID | artículo |
| openAccess |  | 2013 | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles | Gracia-Aznarez, Francisco Javier; Hoya, Miguel de la; Durán, Mercedes CSIC ORCID; Osorio, Ana; Benitez, Javier | artículo |
