Publicacions en col·laboració amb investigadors/es de Institute Catalá Oncología (10)

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

    European Journal of Human Genetics, Vol. 30, Núm. 9, pp. 1051-1059

2020

  1. Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals

    Cancers, Vol. 12, Núm. 7, pp. 1-32

  2. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

2019

  1. Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

    Clinical Epigenetics, Vol. 11, Núm. 1

2014

  1. GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

    Human Mutation, Vol. 35, Núm. 1, pp. 50-52

  2. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 3, pp. 260-266

  3. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

    Human Molecular Genetics, Vol. 23, Núm. 13, pp. 3506-3512

  4. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

    European Journal of Cancer, Vol. 50, Núm. 13, pp. 2241-2250

2000

  1. Occupation and pancreatic cancer in Spain: A case-control study based on job titles

    International Journal of Epidemiology, Vol. 29, Núm. 6, pp. 1004-1013