Publicacións en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (14)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

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. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

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

    BMC Medical Genetics, Vol. 19, Núm. 1

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

    PLoS ONE, Vol. 7, Núm. 1

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

  3. 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

2007

  1. 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