Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (5)

2018

  1. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

2015

  1. Influence of the exon 3 deletion of GH receptor and IGF-I level at diagnosis on the efficacy and safety of treatment with somatotropin in adults with GH deficiency

    Pituitary, Vol. 18, Núm. 1, pp. 101-107

2011

  1. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis

    Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188

2010

  1. Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 5, pp. 2147-2154

  2. The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 1, pp. 222-229