Publicacións en colaboración con investigadores/as de University of Milan (7)

2020

  1. 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

2018

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

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

  2. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

    Journal of Bone and Mineral Research, Vol. 33, Núm. 8, pp. 1480-1488

  3. Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)

    Best Practice and Research: Clinical Endocrinology and Metabolism, Vol. 32, Núm. 6, pp. 941-954

2016

  1. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

    Clinical Epigenetics, Vol. 8, Núm. 1, pp. 1-12

2013

  1. Clinical utility gene card for: Pseudohypoparathyroidism

    European Journal of Human Genetics, Vol. 21, Núm. 6

2012

  1. 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