Publicacións nas que colabora con Raquel Rodríguez López (5)

2019

  1. The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

    Journal of Human Genetics, Vol. 64, Núm. 3, pp. 221-231

2004

  1. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

    International Journal of Cancer, Vol. 108, Núm. 1, pp. 54-56

  2. The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

    International Journal of Cancer, Vol. 110, Núm. 6, pp. 845-849

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

  2. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

    European Journal of Human Genetics