Publicacións nas que colabora con Eduardo Díaz-Rubio García (8)

2017

  1. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

    PLoS ONE, Vol. 12, Núm. 11

2014

  1. 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

  2. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium

    Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680

  3. Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

    Breast Cancer Research and Treatment, Vol. 148, Núm. 2, pp. 415-421

2013

  1. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

    European Journal of Human Genetics, Vol. 21, Núm. 8, pp. 883-886

2010

  1. 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

  1. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

    Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312