Publications in collaboration with researchers from Universidade de Santiago de Compostela (17)

2011

  1. 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. Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

    BMC Genetics, Vol. 11

  2. Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 5, pp. 2147-2154

  3. The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 1, pp. 222-229

2009

  1. The role of inbreeding in the extinction of a European royal dynasty

    PLoS ONE, Vol. 4, Núm. 4

2008

  1. High frequency of copy number variations and sequence variants at CYP21A2 locus: Implication for the genetic diagnosis of 21-hydroxylase deficiency

    PLoS ONE, Vol. 3, Núm. 5

  2. Serum TNF-α levels in relation to alcohol consumption and common TNF gene polymorphisms

    Alcohol, Vol. 42, Núm. 6, pp. 513-518

2007

  1. Liver enzyme levels in relation to a common polymorphism in the CD14 promoter gene [2]

    European Journal of Gastroenterology and Hepatology

2006

  1. Gene by environment interaction: The -159C/T polymorphism in the promoter region of the CD14 gene modifies the effect of alcohol consumption on serum IgE levels

    Alcoholism: Clinical and Experimental Research, Vol. 30, Núm. 1, pp. 7-14

  2. 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. The -159C/T polymorphism in the promoter region of the CD14 gene is associated with advanced liver disease and higher serum levels of acute-phase proteins in heavy drinkers

    Alcoholism: Clinical and Experimental Research, Vol. 29, Núm. 7, pp. 1206-1213

2004

  1. Relation of tumor necrosis factor (TNF) gene polymorphisms with serum concentrations and in vitro production of TNF-alpha and interleukin-8 in heavy drinkers

    Alcohol, Vol. 34, Núm. 2-3, pp. 273-277

  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