English   español  

Browsing by Author Tejada, María Isabel

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 14 of 14
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2017Análisis funcionales confirman la patogenicidad de una variante de splicing en el gen CHD7 hallada mediante secuenciación masivaVillate Bejarano, Olatz; Fraile-Bethencourt, Eugenia; Valenzuela, Alberto; Velasco, Eladio ; Tejada, María Isabelpóster de congreso
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.jpg2008Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndromeTejada, María Isabel; López Posadas, Blanca; Fernández Carvajal, Mª Isabel artículo
openAccessBRCA1BRCA2 .pdf.jpg2015Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancerRebbeck, Timothy R.; Osorio, Ana; Benitez, Javier; Tejada, María Isabel; Durán, Mercedes ; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacioartículo
openAccessBRCA1 5272-1G-A and BRCA2.pdf.jpgJan-2010BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish originInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Pérez-Cabornero, Lucía ; Sanz, David J.; Tejada, María Isabel; Miner, Cristina ; Velasco, Eladio artículo
openAccessPosterertoAEGH17.pdf.jpg2017Caracterización funcional de variantes candidatas de splicing en genes de susceptibilidad mediante minigenes híbridos: PALB2Valenzuela, Alberto; Fraile-Bethencourt, Eugenia; Díez-Gómez, Beatriz; Entrala, Carmen; Martínez-Delgado, Beatriz; Villate Bejarano, Olatz; Tejada, María Isabel; Acedo, Alberto ; Velasco, Eladio póster de congreso
openAccessEPI-11-0888.pdf.jpg2012Common 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, Jacquesartículo
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.jpg2011Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation CarriersRamus, Susan J.; Durán, Mercedes ; Tejada, María Isabelartículo
openAccessepithelialovariancancer.pdf.jpg2015Identification of six new susceptibility loci for invasive epithelial ovarian cancerKuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes ; Tejada, María Isabelartículo
closedAccessaccesoRestringido.pdf.jpgAug-2011Intermediate FMR1 alleles and cognitive and/or behavioural phenotypesMadrigal, I.; Xunclà, Mar; Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, Mª Isabel ; Pérez-Jurado, Luis Alberto; Rodríguez-Revenga, L.; Milà, Montserratartículo
openAccessTesting for Fragile X.pdf.jpg2014Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in SpainTejada, María Isabel; Martínez, Francisco; Fernández Carvajal, Mª Isabel ; Ayuso, Carmen; Milà, Montserratartículo
closedAccessMay-2008The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in SpainMilne, Roger L.; Blanco, Ana; Durán, Mercedes ; Velasco, Eladio ; Esteban Cardeñosa, Eva ; Tejada, María Isabelartículo
openAccessX_chromosome.pdf.jpg29-Nov-2007X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardationMadrigal, I.; Rodríguez-Revenga, L.; Sánchez, Ana; Martínez, Francisco; Fernández Carvajal, Mª Isabel ; Arranz, J. A.; Tejada, María Isabel; Pérez-Jurado, Luis Alberto; Estivill, Xavier; Milà, Montserratartículo