Publications en collaboration avec des chercheurs de Hospital Universitario Araba (14)

2020

  1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

  2. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2019

  1. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

    Clinical Genetics

  2. 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. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

2015

  1. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

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

2013

  1. MECP2 gene study in a large cohort: Testing of 240 female patients and 861 healthy controls (519 females and 342 males)

    Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729

2012

  1. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 404-413

2010

  1. Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2

    Journal of Community Genetics, Vol. 1, Núm. 2, pp. 91-99

  2. LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

    Familial Cancer

2009

  1. A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

    Familial Cancer, Vol. 8, Núm. 4, pp. 533-539

2007

  1. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country [2]

    Breast Cancer Research and Treatment

  2. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: Implications for genetic counselling

    Breast Cancer Research and Treatment, Vol. 106, Núm. 2, pp. 255-262

  3. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country

    Cancer Letters, Vol. 255, Núm. 2, pp. 295-299