PEDRO
PÉREZ SEGURA
Profesor asociado de Ciencias de la Salud
Instituto de Biología y Genética Molecular
Valladolid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Biología y Genética Molecular (11)
2024
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Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants
Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2022
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Cancers, Vol. 14, Núm. 18
2021
2019
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report
Journal of Medical Genetics, Vol. 56, Núm. 7, pp. 453-460
2018
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160
2014
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Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants
Human Mutation, Vol. 35, Núm. 1, pp. 53-57
2013
2012
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315
2011
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699