Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (16)

2022

  1. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

    Frontiers in Pediatrics, Vol. 10

2021

  1. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

    Human Mutation, Vol. 42, Núm. 4, pp. 473-486

2020

  1. Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Frontiers in Molecular Biosciences, Vol. 7

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

    Frontiers in Neurology, Vol. 11

  3. Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

    Clinical Genetics, Vol. 97, Núm. 5, pp. 677-687

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

    Mitochondrion, Vol. 52, pp. 157-162

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. Clinical implication of FMR1 intermediate alleles in a Spanish population

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

  2. 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

2016

  1. Analysis of lynch syndrome mismatch repair genes in women with endometrial cancer

    Oncology (Switzerland), Vol. 91, Núm. 3, pp. 171-176

  2. Associated clinical disorders diagnosed by medical specialists in 188 FMR1 premutation carriers found in the last 25 years in the Spanish Basque Country: A retrospective study

    Genes, Vol. 7, Núm. 10

2015

  1. Fragile X-associated primary ovarian insufficiency (FXPOI)

    Allelic Forms of the FMR1 Gene: Fragile X Syndrome, Primary Ovarian Insufficiency and Tremor Ataxia Syndrome Among Others (Nova Science Publishers, Inc.), pp. 19-31

  2. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Human Mutation, Vol. 36, Núm. 12, pp. 1197-1204

2009

  1. Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

    Breast Cancer Research and Treatment, Vol. 113, Núm. 3, pp. 545-551

2007

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

    BMC Genomics, Vol. 8