Publicaciones en las que colabora con GUIOMAR PÉREZ DE NANCLARES LEAL (58)

2023

  1. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2013

  1. Aspectos clínicos en dos casos de seudohipoparatiroidismo ( i a y i b) y estudio molecular del locus GNAS

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 79, Núm. 5, pp. 319-324

  2. Endocrine profile and phenotype-(Epi)genotype correlation in Spanish patients with pseudohypoparathyroidism

    Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5

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. 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

  4. Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

    PLoS ONE, Vol. 7, Núm. 1

2011

  1. Hipercalcemia hipocalciúrica familiar: a propósito de una nueva mutación

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 74, Núm. 1, pp. 47-50

2010

  1. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280

  2. Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: Case report

    Journal of Pediatric Endocrinology and Metabolism, Vol. 23, Núm. 8, pp. 827-830

  3. Heterozygous glucokinase mutations and birth weight in Spanish children

    Diabetic Medicine

  4. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771

  5. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: Interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 12

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

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

  7. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110

  8. The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): A major ATP-binding residue

    Diabetic Medicine, Vol. 27, Núm. 2, pp. 225-229

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 B pancreática. Enfoque diagnóstico y tratamiento

    Revista española de pediatría: clínica e investigación, Vol. 65, Núm. 5, pp. 478-487

  3. Hipoglucemia por hiperinsulinismo neonatal

    Revista española de pediatría: clínica e investigación, Vol. 65, Núm. 5, pp. 495-508

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

    Diabetic Medicine