Publicaciones en las que colabora con Jesús Barreiro Conde (8)

2011

  1. 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

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

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

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

1999

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

    Journal of Clinical Endocrinology and Metabolism