Firma en Digital.CSIC (*)
Velasco, Eladio
 
Centro o Instituto
CSIC-UVA - Instituto de Biología y Genética Molecular (IBGM)
 
Departamento
Genética Molecular de la Enfermedad
 
Especialización
Splicing y susceptibilidad a cáncer.
 
Email
eavelsam@ibgm.uva.es
 
 
Perfil en Google Scholar
 
WoS ResearcherID - Publons
 
Scopus AuthorID
 
 
Otros identificadores (con url)
 

Results 1-20 of 47 (Search time: 0.056 seconds).

RightsPreviewIssue DateTitleAuthor(s)Type
1closedAccessaccesoRestringido.pdf.jpgMar-2006A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriersOsorio, Ana; Martínez-Delgado, Beatriz; Velasco, Eladio CSIC ORCID artículo
2openAccessA 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 CSIC ORCID; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID artículo
3closedAccessaccesoRestringido.pdf.jpgMay-2009A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCRPérez-Cabornero, Lucía CSIC; Velasco, Eladio CSIC ORCID ; Infante, Mar CSIC ORCID; Sanz, David J.; Lastra, Enrique; Hernández, Lara CSIC; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCIDartículo
4openAccessalternarepor.pdf.jpg2019Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reporLopez Periolo, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F.; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S.; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; KConFab Investigators; Valenzuela-Palomo, Alberto; Velasco, Eladio CSIC ORCID ; Southey, Melissa; Vreeswijk, Maaike P. G.; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B.; Walker, Logan C.; Krieger, Sophie; Hoya, Miguel de laartículo
5closedAccessOct-2003Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effectsDíez, Orland; Osorio, Ana; Durán, Mercedes CSIC ORCID; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Esteban Cardeñosa, Eva CSIC; Miner, Cristina CSICartículo
6openAccessAnalysis 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 CSIC ORCID; Tejada, María Isabel; Velasco, Eladio CSIC ORCID ; Benitez, Javier; Vega, Anaartículo
7closedAccessaccesoRestringido.pdf.jpg2020Association between bat vitamin D receptor 30 haplotypes and vitamin D levels at baseline and a lower response after increased vitamin D supplementation and exposure to sunlightPérez-Alonso, María; Briongos, Laisa-Socorrro; Ruiz-Mambrilla, Marta; Velasco, Eladio CSIC ORCID ; Olmos, José-Manuel; Luis-Román, Daniel A. de; Dueñas-Laita, Antonio; Pérez-Castrillón, José Luisartículo
8openAccessBRCA1 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 CSIC ORCID; Durán, Mercedes CSIC ORCID; Acedo, Alberto CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Sanz, David J.; Tejada, María Isabel; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID artículo
9closedAccessaccesoRestringido.pdf.jpgJul-2006Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive womenPérez-Castrillón, José Luis; Velasco, Eladio CSIC ORCID artículo
10openAccessBRCA2geneticvariants.pdf.jpg2014Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variantsAcedo, Alberto CSIC ORCID; Gutiérrez-Enríquez, Sara; Díez, Orland; Velasco, Eladio CSIC ORCID ; Hoya, Miguel de laartículo
11openAccessCharacterization of New Founder.pdf.jpg2011Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a lynch syndrome phenotypePérez-Cabornero, Lucía CSIC; Borràs, Ester; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID ; Acedo, Alberto CSIC ORCID; Durán, Mercedes CSIC ORCIDartículo
12openAccesscharacteristud.pdf.jpg2018Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case studyMontalban, Gemma; Fraile-Bethencourt, Eugenia; Lopez Periolo, Irene; Pérez-Segura, Pedro; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Díez, Orland; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Gutiérrez-Enríquez, Saraartículo
13openAccessComprehensive_Sanoguera_Art2020.pdf.jpg2020Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C GeneSanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; Bueno-Martínez, Elena; Llovet, Patricia; Díez-Gómez, Beatriz; Caloca, María J. CSIC; Pérez-Segura, Pedro; Fraile-Bethencourt, Eugenia; Colmena, Marta; Carvalho, Sara; Allen, Jamie; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID artículo
14openAccessComprehensive splicing functional.pdf.jpg2012Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesAcedo, Alberto CSIC ORCID; Sanz, David J.; Durán, Mercedes CSIC ORCID; Infante, Mar CSIC ORCID; Pérez-Cabornero, Lucía CSIC; Miner, Cristina CSIC; Velasco, Eladio CSIC ORCID artículo
15openAccessDetection 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 CSIC; Infante, Mar CSIC ORCID; Tejada, María Isabel; Osorio, Ana; Velasco, Eladio CSIC ORCID ; Díez, Orland; Vega, Anaartículo
16closedAccess1998Estudio clínico y genético de tres familias afectadas por la enfermedad de DarierRedondo Mateo, Juan; Velasco, Eladio CSIC ORCID artículo
17closedAccessaccesoRestringido.pdf.jpg2002Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): identificación de nueve variantes de efecto desconocido no descritasVelasco, Eladio CSIC ORCID ; Esteban Cardeñosa, Eva CSIC; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Lastra, Enrique; García-Girón, Carlos; Miner, Cristina CSICartículo
18closedAccessaccesoRestringido.pdf.jpg2013Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assaysPérez-Cabornero, Lucía CSIC; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID ; Lastra, Enrique; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCIDartículo
19openAccessFrequency 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 CSIC; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID ; Lastra, Enrique; Acedo, Alberto CSIC ORCID; Miner, Cristina CSIC; Durán, Mercedes CSIC ORCIDartículo
20openAccessfuntionsyndro.pdf.jpg2018Functional 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 syndromeVillate Bejarano, Olatz; Ibarluzea, Nekane; Fraile-Bethencourt, Eugenia; Valenzuela-Palomo, Alberto; Velasco, Eladio CSIC ORCID ; Grozeva, Detelina; Raymond, F. L.; Botella, María P.; Tejada, María Isabelartículo