Publicaciones en las que colabora con Jesús Argente Oliver (10)

2018

  1. Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109

  2. Braquidactilia tipo C debida a mutación de parada en el gen GDF5

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 88, Núm. 2, pp. 107-109

  3. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2015

  1. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

    Nature Genetics, Vol. 47, Núm. 4, pp. 381-386

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. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 12

  3. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics

2010

  1. 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

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

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

2005

  1. Red Europea de genética de la diabetes tipo 1

    Endocrinologia y Nutricion, Vol. 52, Núm. 4, pp. 177-183