Publications by the researcher in collaboration with Jesús Argente Oliver (10)
2018
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Brachydactyly type C due to a nonsense mutation in the GDF5 gene
Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109
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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
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2015
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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
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
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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
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Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
Nature Genetics
2010
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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
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2005
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Red Europea de genética de la diabetes tipo 1
Endocrinologia y Nutricion, Vol. 52, Núm. 4, pp. 177-183