Publicacions en què col·labora amb Eva Esteban Cardeñosa (11)

2013

  1. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

    Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511

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

2007

  1. Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes

    Nature Protocols, Vol. 2, Núm. 1, pp. 237-246

2006

  1. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)

    Journal of Human Genetics, Vol. 51, Núm. 7, pp. 611-617

2005

  1. Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis

    Electrophoresis, Vol. 26, Núm. 13, pp. 2539-2552

2004

  1. High-Throughput Mutation Detection Method to Scan BRCA1 and BRCA2 Based on Heteroduplex Analysis by Capillary Array Electrophoresis

    Clinical Chemistry, Vol. 50, Núm. 2, pp. 313-320

  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. Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

    Human mutation, Vol. 21, Núm. 4, pp. 448

2002

  1. Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): Identificación de nueve variantes de efecto desconocido no descritas

    Medicina Clinica, Vol. 119, Núm. 12, pp. 441-445