Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (13)

2019

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2017

  1. Tratamiento con hormona de crecimiento en pequeños para la edad gestacional en España

    Anales de Pediatria, Vol. 86, Núm. 5, pp. 249-254

2011

  1. Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

    PLoS ONE, Vol. 6, Núm. 4

  2. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

2008

  1. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

  2. Predictors of the persistence of childhood asthma

    Allergologia et Immunopathologia, Vol. 36, Núm. 2, pp. 66-71

2007

  1. Hipoglucemia neonatal

    Anales de Pediatria

2005

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. Ingestión de cuerpos extraños de plomo

    Anales de Pediatria, Vol. 63, Núm. 5, pp. 453-456

  3. Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548

  4. Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome

    European Journal of Endocrinology, Vol. 153, Núm. 4, pp. 499-502

2004

  1. Cambio de actitudes respecto al uso de casco en bicicleta después de sufrir un accidente grave

    Anales de Pediatria