Publications dans lesquelles il/elle collabore avec Cristina Luzuriaga Tomás (11)

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2008

  1. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients

    Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878

  2. The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: Results from a two-year controlled prospective study

    Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 7, pp. 2709-2715

2007

  1. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546

  2. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  3. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713

2006

  1. Children born small for gestational age (SGA) who fail to achieve catch up growth by 2-8 years of age are short from infancy to adulthood: Data from a cross-sectional study of 486 Spanish children

    Pediatric Endocrinology Reviews, Vol. 4, Núm. 1, pp. 15-27

  2. Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGA

    Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 12, pp. 5038-5043

2002

  1. Longitudinal study of the pubertal growth spurt in children born small for gestational age without postnatal catch-up growth

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 4, pp. 381-388