| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2017 | Análisis funcionales confirman la patogenicidad de una variante de splicing en el gen CHD7 hallada mediante secuenciación masiva | Villate Bejarano, Olatz; Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID ; Grozeva, Detelina; Raymond, Lucy; Botella, María P.; Tejada, María Isabel | póster de congreso |
| openAccess |  | 2013 | Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases | Blanco, Ana; Hoya, Miguel de la; Osorio, Ana; Díez, Orland; Infante, Mar CSIC ORCID; Tejada, María Isabel; Velasco, Eladio CSIC ORCID ; Benitez, Javier; Vega, Ana | artículo |
| closedAccess |  | 2008 | Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome | Tejada, María Isabel; López Posadas, Blanca; Fernández Carvajal, M. Isabel CSIC | 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 CSIC ORCID; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio | artículo |
| 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 | Caracterización funcional de variantes candidatas de splicing en genes de susceptibilidad mediante minigenes híbridos: PALB2 | Valenzuela-Palomo, Alberto CSIC; Fraile-Bethencourt, Eugenia CSIC ORCID; Díez-Gómez, Beatriz CSIC; Entrala, Carmen; Martínez-Delgado, Beatriz; Villate Bejarano, Olatz; Tejada, María Isabel; Acedo, Alberto CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
| 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 CSIC ORCID; Tejada, María Isabel; Offit, Kenneth; Simard, Jacques | artículo |
| openAccess |  | 2012 | Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer | Blanco, Ana; Hoya, Miguel de la; Esteban Cardeñosa, Eva CSIC; Infante, Mar CSIC ORCID; Tejada, María Isabel; Osorio, Ana; Velasco, Eladio CSIC ORCID ; Díez, Orland; Vega, Ana | artículo |
| openAccess |  | 2018 | Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome | Villate Bejarano, Olatz; Ibarluzea, Nekane; Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID ; Grozeva, Detelina; Raymond, F. L.; Botella, María P.; Tejada, María Isabel | artículo |
| closedAccess |  | 2011 | Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers | Ramus, Susan J.; Durán, Mercedes CSIC ORCID; Tejada, María Isabel | artículo |
| openAccess |  | 2015 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes CSIC ORCID; Tejada, María Isabel | artículo |
| closedAccess |  | ago-2011 | Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes | Madrigal, Irene; Xunclà, Mar; Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, M. Isabel CSIC; Pérez-Jurado, Luis Alberto; Rodríguez-Revenga, Laia; Milà, Montserrat | artículo |
| openAccess |  | 2014 | Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain | Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, M. Isabel CSIC; Ayuso, Carmen; Milà, Montserrat | artículo |
| 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 |  | 29-nov-2007 | X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation | Madrigal, Irene; Rodríguez-Revenga, Laia; Sánchez, Ana; Martínez, Francisco; Fernández Carvajal, M. Isabel CSIC; Arranz, J. A.; Tejada, María Isabel; Pérez-Jurado, Luis Alberto; Estivill, Xavier CSIC; Milà, Montserrat | artículo |
