Publicacións en colaboración con investigadores/as de Universidade da Coruña (13)

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

2020

  1. A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

    Canadian Journal of Cardiology, Vol. 36, Núm. 9, pp. 1554.e1-1554.e3

2018

  1. A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

    BioMed Research International, Vol. 2018

2015

  1. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2013

  1. Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism

    Arthritis Research and Therapy, Vol. 15, Núm. 5

2010

  1. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  2. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

    BMC Medical Genetics, Vol. 11, Núm. 1

2005

  1. Cell therapy: A therapeutic alternative to treat focal cartilage lesions

    Transplantation Proceedings

  2. Phosphatase-1 and -2A inhibition modulates apoptosis in human osteoarthritis chondrocytes independently of nitric oxide production

    Annals of the Rheumatic Diseases, Vol. 64, Núm. 7, pp. 1079-1082

2004

  1. Pig chondrocyte xenoimplants for human chondral defect repair: An in vitro model

    Wound Repair and Regeneration, Vol. 12, Núm. 4, pp. 444-452

  2. The biological action of hyaluronan on human osteoartritic articular chondrocytes: The importance of molecular weight

    Clinical and Experimental Rheumatology, Vol. 22, Núm. 3, pp. 307-312

  3. Xeno-implantation of pig chondrocytes into rabbit to treat localized articular cartilage defects: An animal model

    Wound Repair and Regeneration, Vol. 12, Núm. 3, pp. 337-345