Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (22)

2024

  1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

  2. Recommendations for the future management of thrombocytopenia in patients with liver cirrhosis: A modified RAND/UCLA appropriateness method

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 1, pp. 32-50

2023

  1. An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in rd10 Mice

    Antioxidants, Vol. 12, Núm. 1

  2. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

  3. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

2022

  1. Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients

    Schizophrenia, Vol. 8, Núm. 1

  2. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

    Clinical Epigenetics, Vol. 14, Núm. 1

  3. [Translated article] Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas, Vol. 113, Núm. 2, pp. T178-T182

2021

  1. GSE4-loaded nanoparticles a potential therapy for lung fibrosis that enhances pneumocyte growth, reduces apoptosis and DNA damage

    FASEB Journal, Vol. 35, Núm. 3

  2. Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas

  3. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Nature Communications, Vol. 12, Núm. 1

2020

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

    Frontiers in Neurology, Vol. 11

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11

2016

  1. Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 567-582

2013

  1. Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

    Leukemia

2010

  1. Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa

    Medicina Clinica

  2. Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

    Anales de Pediatria, Vol. 72, Núm. 1, pp. 72-78

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

2008

  1. Genética del seudohipoparatiroidismo: Bases para el consejo genético

    Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483