Publikationen in Zusammenarbeit mit Forschern von Hospital de la Santa Creu i Sant Pau (12)

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

  2. L-acetylcarnitine for treating fragile X syndrome

    Cochrane Database of Systematic Reviews, Vol. 2015, Núm. 5

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

2012

  1. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

2010

  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754

  2. 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

2009

  1. Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

    Breast Cancer Research and Treatment, Vol. 113, Núm. 3, pp. 545-551

  2. Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

    American Journal of Human Genetics, Vol. 84, Núm. 2, pp. 115-122

2008

  1. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

    Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869

2007

  1. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer

    Breast Cancer Research and Treatment, Vol. 103, Núm. 1, pp. 103-107

2001

  1. Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia [11]

    Haematologica

1994

  1. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome

    Journal of Medical Genetics, Vol. 31, Núm. 1, pp. 76-78