Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (18)

2018

  1. Management guidelines for disorders / different sex development (DSD)

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

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

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

  3. 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. Leydig cell testicular tumour presenting as isosexual precocious pseudopuberty in a 5 year-old boy with no palpable testicular mass

    Clinical Pediatric Endocrinology, Vol. 19, Núm. 1, pp. 19-23

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

  2. Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

    Human mutation, Vol. 27, Núm. 2, pp. 214

2005

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. Incidencia y características clínicas al manifestarse la diabetes mellitus tipo 1 en niños de Galicia (España, 2001-2002)

    Anales de Pediatria, Vol. 62, Núm. 2, pp. 123-127

  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. Análisis genético de la talla baja

    Anales de Pediatria, Vol. 60, pp. 9-14

1999

  1. The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]

    Journal of Clinical Endocrinology and Metabolism

1997

  1. Hipomelanosis de Ito: Autismo, dilatacion segmentaria de colon y hallazgo inusual en neuroimagen

    Revista de Neurologia, Vol. 25, Núm. 137, pp. 71-74

1996

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

    Journal of Pediatric Endocrinology and Metabolism