LUCIA
PEREZ CABORNERO
Ikertzailea 2021-2021 tartean
Universidad de Valladolid
Valladolid, EspañaUniversidad de Valladolid-ko ikertzaileekin lankidetzan egindako argitalpenak (7)
2013
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Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays
Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390
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Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Colorectal Disease, Vol. 15, Núm. 3
2012
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Lynch syndrome diagnostics: Decision-making process for germ-line testing
Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262
2011
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Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype
Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555
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Frequency of rearrangements in Lynch syndrome cases associated with MSH2: Characterization of a new deletion involving both EPCAM and the 5′ part of MSH2
Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1556-1562
2009
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A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR
European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493
2007
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Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes
Nature Protocols, Vol. 2, Núm. 1, pp. 237-246