Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (22)

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

    Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168

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

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

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

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. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

2005

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. 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

  3. 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

1999

  1. High serum leptin levels in children with type 1 diabetes mellitus: Contribution of age, BMI, pubertal development and metabolic status

    Clinical Endocrinology, Vol. 51, Núm. 5, pp. 603-610

1997

  1. Crecimiento en patología oncológica

    Anales Espanoles de Pediatria, Vol. 46, Núm. 2 SUPPL. 2, pp. 160-162

  2. Nocturnal rise of leptin in normal prepubertal and pubertal children and in patients with perinatal stalk-transection syndrome

    Journal of Clinical Endocrinology and Metabolism, Vol. 82, Núm. 8, pp. 2751-2754

1996

  1. Growth hormone releasing hexapeptide-6 (GHRP-6) in test in the diagnosis of GH-deficiency

    Journal of Pediatric Endocrinology and Metabolism

1995

  1. Absence of growth hormone (GH) secretion after the administration of either GH-releasing hormone (GHRH), GH-releasing peptide (GHRP-6), or GHRH plus GHRP-6 in children with neonatal pituitary stalk transection

    Journal of Clinical Endocrinology and Metabolism, Vol. 80, Núm. 11, pp. 3180-3184

  2. Plasma growth hormone response to growth hormone‐releasing hexapeptide (GH‐RP‐6) in children with short stature

    Acta Pædiatrica, Vol. 84, Núm. 8, pp. 904-908