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Browsing by Author Pérez-Cabornero, Lucía

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Showing results 1 to 18 of 18
RightsPreviewIssue DateTitleAuthor(s)Type
openAccessA high proportion of DNA.pdf.jpgMar-2010A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patientsSanz, David J.; Acedo, Alberto ; Infante, Mar ; Durán, Mercedes ; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio artículo
closedAccessaccesoRestringido.pdf.jpgMay-2009A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCRPérez-Cabornero, Lucía ; Velasco, Eladio ; Infante, Mar ; Sanz, David J.; Lastra, Enrique; Hernández, Lara ; Miner, Cristina ; Durán, Mercedes artículo
openAccessSEG2011.pdf.jpgSep-2011Análisis funcional de splicing de variantes de ADN de los genes BRCA1 y BRCA2 mediante minigenes híbridosAcedo, Alberto ; Sanz, David J.; Durán, Mercedes ; Infante, Mar ; Pérez-Cabornero, Lucía ; Díez-Gómez, Beatriz; Miner, Cristina comunicación de congreso
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
openAccessCharacterization of New Founder.pdf.jpg2011Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a lynch syndrome phenotypePérez-Cabornero, Lucía ; Borràs, Ester; Infante, Mar ; Velasco, Eladio ; Acedo, Alberto ; Durán, Mercedes artículo
openAccessComprehensive splicing functional.pdf.jpg2012Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesAcedo, Alberto ; Sanz, David J.; Durán, Mercedes ; Infante, Mar ; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio artículo
openAccessEfecto del polimorfismo.pdf.jpg2011Efecto del polimorfismo MLH1-93G>A en Cáncer ColorrectalPérez-Cabornero, Lucía ; Infante, Mar ; Acedo, Alberto ; Lastra, Enrique; Hernández, Lara ; Miner, Cristina ; Durán, Mercedes comunicación de congreso
openAccessEffect of DNA Variants.pdf.jpg2010Effect of DNA variants from BRCA2 exons 19 and 20 on the splicing process by hybrid minigenesSanz, David J.; Infante, Mar ; Pérez-Cabornero, Lucía ; Lastra, Enrique; Miner, Cristina ; Durán, Mercedes ; Velasco, Eladio póster de congreso
openAccessEstudio Mutacional.pdf.jpg2011Estudio mutacional del gen RAD51C en pacientes con cáncer de mama y ovario de la zona éste de Castilla y LeónInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Pérez-Cabornero, Lucía ; Lastra, Enrique; Miner, Cristina comunicación de congreso
closedAccessaccesoRestringido.pdf.jpg2013Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assaysPérez-Cabornero, Lucía ; Infante, Mar ; Velasco, Eladio ; Lastra, Enrique; Miner, Cristina ; Durán, Mercedes artículo
closedAccessaccesoRestringido.pdf.jpg2012Frequency of germ line MUTYH mutations in patients diagnosed with colorectal cancer in Castilla y León (Spain)Tascón, Mónica; Pérez-Cabornero, Lucía ; Infante, Mar ; Velasco, Eladio ; Lastra, Enrique; Marcos García, G.; Esteban Cardeñosa, Eva ; Miner, Cristina ; Durán, Mercedes póster de congreso
openAccessFrequency of Rearrangements.pdf.jpgJul-2011Frequency of rearrangements in lynch syndrome cases associated with MSH2: Characterization of a new deletion involving both EPCAM and the 5′ part of MSH2Pérez-Cabornero, Lucía ; Infante, Mar ; Velasco, Eladio ; Lastra, Enrique; Acedo, Alberto ; Miner, Cristina ; Durán, Mercedes artículo
closedAccessaccesoRestringido.pdf.jpg2013Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndromePérez-Cabornero, Lucía ; Infante, Mar ; Velasco, Eladio ; Lastra, Enrique; Miner, Cristina ; Durán, Mercedes artículo
closedAccess2007Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genesVelasco, Eladio ; Infante, Mar ; Durán, Mercedes ; Pérez-Cabornero, Lucía ; Sanz, David J.; Esteban Cardeñosa, Eva ; Miner, Cristina artículo
closedAccessaccesoRestringido.pdf.jpg2013Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancerMartínez-Urueña, N.; Macías, Laura; Pérez-Cabornero, Lucía ; Infante, Mar ; Lastra, Enrique; Cruz, Juan Jesús; Miner, Cristina ; González-Sarmiento, Rogelio  ; Durán, Mercedes artículo
closedAccessaccesoRestringido.pdf.jpg2012Lynch syndrome diagnostics: decision-making process for germ-line testingLastra, Enrique; García-González, María; Llorente, Beatriz; Bernuy, Coralina; Barrio, M. Jesús; Pérez-Cabornero, Lucía ; Durán, Mercedes ; García-Girón, Carlosartículo
closedAccessOct-2010MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome FamiliesBorràs, Ester; Pérez-Cabornero, Lucía artículo
openAccessTwo founder BRCA2.pdf.jpgJul-2010Two founder BRCA2 mutations predispose to breast cancer in young womenInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Sanz, David J.; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio artículo