Publicaciones (32) Publicaciones de GUSTAVO PÉREZ DE NANCLARES LEAL

2021

  1. Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial

    The Lancet, Vol. 398, Núm. 10295, pp. 121-130

2019

  1. Thyroid hormone resistance from newborns to adults: a Spanish experience

    Journal of Endocrinological Investigation, Vol. 42, Núm. 8, pp. 941-949

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

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

  2. Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 7, pp. 369-371

2015

  1. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: Atypical findings and a novel mutation in NR0B1

    Journal of Pediatric Endocrinology and Metabolism, Vol. 28, Núm. 9-10, pp. 1129-1137

  2. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus

    PLoS ONE, Vol. 10, Núm. 2

2013

  1. Aspectos clínicos en dos casos de seudohipoparatiroidismo (ia y ib) y estudio molecular del locus GNAS

    Anales de Pediatria, Vol. 79, Núm. 5, pp. 319-324

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

  2. Familial hypocalciuric hypercalcemia: New mutation in the CASR gene converting valine 697 to methionine

    European Journal of Pediatrics, Vol. 171, Núm. 1, pp. 147-150

  3. Hiperinsulinismo neonatal por nueva mutación del gen ABCC8 con evolución hacia diabetes hipoinsulínica

    Revista Espanola de Pediatria, Vol. 68, Núm. 1, pp. 53-58

  4. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863

  2. Hipercalcemia hipocalciúrica familiar: A propósito de una nueva mutación

    Anales de Pediatria, Vol. 74, Núm. 1, pp. 47-50

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

  2. Diabetes neonatal: Defectos genéticos en la función de la célula β pancreática. Enfoque diagnóstico y tratamiento

    Revista Espanola de Pediatria, Vol. 65, Núm. 5, pp. 478-487

  3. Hipoglucemia por hiperinsulinismo neonatal

    Revista Espanola de Pediatria, Vol. 65, Núm. 5, pp. 495-508

  4. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes

    Diabetic Medicine

  5. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: Choanal atresia leading to misdiagnosis of CHARGE syndrome

    European Journal of Endocrinology, Vol. 160, Núm. 4, pp. 711-717

2008

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

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

  2. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712