Publicaciones en las que colabora con 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