Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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. CSIC ORCID; Acedo, Alberto CSIC ORCID; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID | artículo |
closedAccess | | may-2009 | A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR | Pérez-Cabornero, Lucía CSIC; Velasco, Eladio CSIC ORCID ; Infante, Mar CSIC ORCID; Sanz, David J. CSIC ORCID; Lastra, Enrique; Hernández, Lara CSIC ORCID; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCID | artículo |
openAccess | | sep-2011 | Análisis funcional de splicing de variantes de ADN de los genes BRCA1 y BRCA2 mediante minigenes híbridos | Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Durán, Mercedes CSIC ORCID; Infante, Mar CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Díez-Gómez, Beatriz CSIC; Miner, Cristina CSIC | comunicación de congreso |
closedAccess | | 2017 | BRCA 2 mis-splicing: regulación de los exones 17 y 18 | Fraile-Bethencourt, Eugenia CSIC ORCID; Díez-Gómez, Beatriz CSIC; Valenzuela-Palomo, Alberto CSIC; Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Goina, Elisa; Buratti, Emanuele; Velasco, Eladio CSIC ORCID | comunicación de congreso |
openAccess | | ene-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 CSIC ORCID; Durán, Mercedes CSIC ORCID; Acedo, Alberto CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Sanz, David J. CSIC ORCID; Tejada, María Isabel; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID | artículo |
openAccess | | 2017 | BRCA2 mis-splicing: exons 17 and 18 regulation | Fraile-Bethencourt, Eugenia CSIC ORCID; Díez-Gómez, Beatriz CSIC; Valenzuela-Palomo, Alberto CSIC; Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Goina, Elisa; Buratti, Emanuele; Velasco, Eladio CSIC ORCID | póster de congreso |
openAccess | | 2015 | Clasificación funcional y clínica de variantes de ADN del gen BRCA2 mediante minigenes híbridos | Fraile-Bethencourt, Eugenia CSIC ORCID; Velásquez-Zapata, Valeria; Hernández, Marita CSIC ORCID CVN ; Díez-Gómez, Beatriz CSIC; Sanz, David J. CSIC ORCID; Acedo, Alberto CSIC ORCID; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
openAccess | | 2012 | Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes | Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Durán, Mercedes CSIC ORCID; Infante, Mar CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID | artículo |
closedAccess | | 2015 | Construcción de un minigen híbrido para el estudio de mutaciones de splicing en los exones 17 y 18 de BRCA2 | Fraile-Bethencourt, Eugenia CSIC ORCID; Velásquez-Zapata, Valeria; Hernández-Moro, Cristina; Díez-Gómez, Beatriz CSIC; Sanz, David J. CSIC ORCID; Acedo, Alberto CSIC ORCID; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
openAccess | | 2022 | CRISPR/Cas9‐Directed Gene Trap Constitutes a Selection System for Corrected BCR/ABL Leukemic Cells in CML | Vuelta, Elena; Ordóñez, José Luis CSIC ORCID CVN; Sanz, David J. CSIC ORCID; Ballesteros, Sandra; Hernández, Jesús M. CSIC ORCID ; Méndez-Sánchez, Lucía; Sánchez-Martín, M. ; García-Tuñón, Ignacio CSIC ORCID CVN | artículo |
openAccess | | 2010 | Effect of DNA variants from BRCA2 exons 19 and 20 on the splicing process by hybrid minigenes | Sanz, David J. CSIC ORCID; Infante, Mar CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Lastra, Enrique; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
closedAccess | | 2016 | Functional characterization of DNA variants from exons 17 and 18 of the BRCA2 gene | Fraile-Bethencourt, Eugenia CSIC ORCID; Díez-Gómez, Beatriz CSIC; Velásquez-Zapata, Valeria; Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Hernández-Moro, Cristina; Marcos García, G.; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
openAccess | | 2017 | Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18 | Fraile-Bethencourt, Eugenia CSIC ORCID; Díez-Gómez, Beatriz CSIC; Velásquez-Zapata, Valeria; Acedo, Alberto CSIC ORCID; Sanz, David J. CSIC ORCID; Velasco, Eladio CSIC ORCID | artículo |
closedAccess | | 2007 | Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes | Velasco, Eladio CSIC ORCID ; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Sanz, David J. CSIC ORCID; Esteban Cardeñosa, Eva CSIC; Miner, Cristina CSIC | artículo |
openAccess | | 7-jun-2022 | Supplementary files of the article "CRISPR/Cas9‐directed gene trap constitutes a selection system for corrected BCR/ABL leukemic cells in CML" [Dataset] | Vuelta, Elena; Ordóñez, José Luis CSIC ORCID CVN; Sanz, David J. CSIC ORCID; Ballesteros, Sandra; Hernández, Jesús M. CSIC ORCID ; Méndez-Sánchez, Lucía; Sánchez-Martín, M. ; García-Tuñón, Ignacio CSIC ORCID CVN | dataset |
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 |