Medicina
Faculté
Instituto de Biología y Genética Molecular
Valladolid, EspañaPublications en collaboration avec des chercheurs de Instituto de Biología y Genética Molecular (20)
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
2023
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Expression of HMGCS2 in intestinal epithelial cells is downregulated in inflammatory bowel disease associated with endoplasmic reticulum stress
Frontiers in immunology, Vol. 14, pp. 1185517
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Saturated fatty acid-enriched small extracellular vesicles mediate a crosstalk inducing liver inflammation and hepatocyte insulin resistance
JHEP Reports, Vol. 5, Núm. 8
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
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The role of mitochondrial oxidative stress in the metabolic alterations in diet-induced obesity in rats
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, Vol. 33, Núm. 11, pp. 12060-12072
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
2015
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El consumo de vino tinto pero no otras bebidas alcohólicas aumenta la capacidad antioxidante y mejora el perfil pro-inflamatorio después de una dieta rica en grasas oral en voluntarios sanos
Revista Clinica Espanola, Vol. 215, Núm. 9, pp. 486-494
2014
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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants
International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097
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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
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Diol triterpenes block profibrotic effects of angiotensin II and protect from cardiac hypertrophy
PLoS ONE, Vol. 7, Núm. 7
2011
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699
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The role of inflammation in the varicose vein pathology: New insights
Varicose Veins: Symptoms, Causes and Treatments (Nova Science Publishers, Inc.), pp. 59-91
2010
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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research and Treatment, Vol. 119, Núm. 1, pp. 221-232
2006
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Percutaneous bone-marrow-derived cell transplantation: Clinical observations
European Heart Journal, Supplement, Vol. 8, Núm. H