Publicacións nas que colabora con Lourdes Loidi Fernández (14)

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. Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Human mutation, Vol. 30, Núm. 2

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

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. 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

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

2001

  1. LightCycler PCR assay for genotyping codon 634 mutations in the RET protooncogene [2]

    Clinical Chemistry

1999

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

    Journal of Clinical Endocrinology and Metabolism