Publicaciones en colaboración con investigadores/as de Hospital Universitario Araba (14)

2023

  1. m6A levels and expression of its modification genes show significant differences in breast cancer molecular subtypes

    Genes and Diseases, Vol. 10, Núm. 5, pp. 1751-1754

2022

  1. In silico identification and in vitro expression analysis of breast cancer-related m6A-SNPs

    Epigenetics, Vol. 17, Núm. 13, pp. 2144-2156

  2. 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

2019

  1. Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): A case report

    Hereditary Cancer in Clinical Practice, Vol. 17, Núm. 1

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2016

  1. Luminal B breast cancer subtype displays a dicotomic epigenetic pattern

    SpringerPlus, Vol. 5, Núm. 1

2013

  1. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

  2. Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

    Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5

2010

  1. Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2

    Journal of Community Genetics, Vol. 1, Núm. 2, pp. 91-99

  2. LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

    Familial Cancer

2009

  1. A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

    Familial Cancer, Vol. 8, Núm. 4, pp. 533-539

2007

  1. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country [2]

    Breast Cancer Research and Treatment

  2. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: Implications for genetic counselling

    Breast Cancer Research and Treatment, Vol. 106, Núm. 2, pp. 255-262

  3. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country

    Cancer Letters, Vol. 255, Núm. 2, pp. 295-299