Institut d'Investigació Biomédica de Bellvitge -ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. 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

2023

  1. Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

    Journal of the National Comprehensive Cancer Network : JNCCN, Vol. 21, Núm. 7, pp. 743-752

  2. MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation

    Gynecologic Oncology, Vol. 171, pp. 129-140

2021

  1. The challenge of diagnosing constitutional mismatch repair deficiency syndrome in brain malignancies from young individuals

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2018

  1. Primary constitutional MLH1 epimutations: a focal epigenetic event

    British Journal of Cancer, Vol. 119, Núm. 8, pp. 978-987