Bioquímica y Biología Molecular y Fisiología
Departamento
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Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitari de Bellvitge (8)
2024
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2020
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108
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Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization
Cancers, Vol. 12, Núm. 11, pp. 1-16
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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Cortistatin regulates glucose-induced electrical activity and insulin secretion in mouse pancreatic beta-cells
Molecular and Cellular Endocrinology, Vol. 479, pp. 123-132
2018
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Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20
2015
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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair
Gastroenterology, Vol. 149, Núm. 3, pp. 563-566
2011
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International distribution and age estimation of the Portuguese BRCA2 c.156-157insAlu founder mutation
Breast Cancer Research and Treatment, Vol. 127, Núm. 3, pp. 671-679