Publicacións nas que colabora con Jesús Barreiro Conde (18)

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. 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

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. 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

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

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

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

    Journal of Clinical Endocrinology and Metabolism

1997

  1. 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

1993

  1. Influence of sex, age and adrenergic pathways on the growth hormone response to GHRP-6

    Clinical Endocrinology, Vol. 38, Núm. 1, pp. 87-91