Publicaciones en las que colabora con E. Lastra Aras (8)

2013

  1. Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays

    Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390

  2. Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome

    International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201

  3. Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer

    Colorectal Disease, Vol. 15, Núm. 3

2012

  1. Lynch syndrome diagnostics: Decision-making process for germ-line testing

    Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262

2010

  1. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients

    Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967

  2. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

  3. Two founder BRCA2 mutations predispose to breast cancer in young women

    Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571

2009

  1. A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR

    European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493