Publicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (13)

2020

  1. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

  2. Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

    Mitochondrion, Vol. 52, pp. 157-162

2019

  1. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

2015

  1. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 168-181

2014

  1. Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

    BioMed Research International, Vol. 2014

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

2011

  1. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    European Journal of Human Genetics, Vol. 19, Núm. 8, pp. 921-923

2010

  1. 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

  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. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    Nature Genetics, Vol. 41, Núm. 5, pp. 535-543

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. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    BMC Genomics, Vol. 8