Publications by the researcher in collaboration with Jesús Barreiro Conde (13)

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

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

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. Análisis genético de la talla baja

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

  2. Therapeutic optimization of growth hormone deficiency in children and adolescents

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

  3. 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

2002

  1. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045