Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (19)

2021

  1. The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study

    European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379

2015

  1. Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: Association with clinical presentation and response to treatments

    European Journal of Endocrinology, Vol. 172, Núm. 2, pp. 115-122

  2. Influence of the exon 3 deletion of GH receptor and IGF-I level at diagnosis on the efficacy and safety of treatment with somatotropin in adults with GH deficiency

    Pituitary, Vol. 18, Núm. 1, pp. 101-107

2011

  1. LIF, a novel STAT5-regulated gene, is aberrantly expressed in myeloproliferative neoplasms

    Genes and Cancer, Vol. 2, Núm. 5, pp. 593-596

  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

2010

  1. 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. Anagrelide treatment in early pregnancy in a patient with JAK2V617F-positive essential thrombocythemia: Case report and literature review

    Acta Haematologica, Vol. 122, Núm. 4, pp. 221-222

  2. 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

1999

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

    Journal of Clinical Endocrinology and Metabolism

1996

  1. High serum IgA concentrations in patients with diabetes mellitus: Agewise distribution and relation to chronic complications

    Clinical Chemistry, Vol. 42, Núm. 7, pp. 1064-1067