Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (20)

2019

  1. Hipopituitarismo

    Manual de pediatría (Ergon), pp. 748-754

2018

  1. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

2017

  1. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

    Hormones, Vol. 16, Núm. 2, pp. 194-199

2016

  1. Changes in body mass index in girls with idiopathic central precocious puberty under gonadotropin-releasing hormone analogue therapy: The Spanish registry

    Hormone Research in Paediatrics, Vol. 86, Núm. 3, pp. 154-160

2015

  1. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

    Hormones, Vol. 14, Núm. 2, pp. 312-316

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

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

    PLoS ONE, Vol. 6, Núm. 4

  3. 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

2010

  1. Central precocious puberty in children living in Spain: Incidence, prevalence, and influence of adoption and immigration

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 9, pp. 4305-4313

  2. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

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

2007

  1. Hipoglucemia neonatal

    Anales de Pediatria

2006

  1. Pubertad precoz

    Anales de Pediatria Continuada, Vol. 4, Núm. 2, pp. 79-87

2005

  1. Endocrine Disruptors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, pp. 1145-1156

  2. Genetic basis of short stature

    Journal of Endocrinological Investigation

  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. Therapeutic optimization of growth hormone deficiency in children and adolescents

    Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410

  2. Tratamiento combinado con análogos de GnRH y GH

    Anales de Pediatria, Vol. 60, pp. 15-23

2003

  1. Optimización terapéutica del déficit de hormona de crecimiento en niños y adolescentes

    Anales de Pediatria, Vol. 58, Núm. SUPPL. 2, pp. 3-11