Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria Biobizkaia (47)

2023

  1. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  2. Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life

    International Journal of Molecular Sciences, Vol. 24, Núm. 1

2022

  1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

    Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437

  2. Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy

    Frontiers in Cell and Developmental Biology, Vol. 10

  3. E2f2 attenuates apoptosis of activated t lymphocytes and protects from immune‐mediated injury through repression of fas and fasl

    International Journal of Molecular Sciences, Vol. 23, Núm. 1

  4. Educating EVs to Improve Bone Regeneration: Getting Closer to the Clinic

    International Journal of Molecular Sciences, Vol. 23, Núm. 3

  5. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

  6. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

2021

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  2. Cell and cell-free therapies to counteract human premature and physiological aging: Mscs come to light

    Journal of Personalized Medicine, Vol. 11, Núm. 10

  3. Cutting edge endogenous promoting and exogenous driven strategies for bone regeneration

    International Journal of Molecular Sciences, Vol. 22, Núm. 14

  4. Murine femur micro-computed tomography and biomechanical datasets for an ovariectomy-induced osteoporosis model

    Scientific Data

2020

  1. Crucial Role of Lamin A/C in the Migration and Differentiation of MSCs in Bone

    Cells, Vol. 9, Núm. 6

  2. Deciphering the Relevance of Bone ECM Signaling

    Cells, Vol. 9, Núm. 12

  3. Osteoporosis and the potential of cell-based therapeutic strategies

    International Journal of Molecular Sciences, Vol. 21, Núm. 5

  4. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

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

    Genes, Vol. 11, Núm. 1

  6. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

    Mutation Research - Genetic Toxicology and Environmental Mutagenesis, Vol. 852

2019

  1. Immunomodulatory effects of MSCs in bone healing

    International Journal of Molecular Sciences, Vol. 20, Núm. 21

  2. Suitability and limitations of mesenchymal stem cells to elucidate human bone illness

    World Journal of Stem Cells, Vol. 11, Núm. 9, pp. 578-593