Publicaciones en colaboración con investigadoras/es de Assistance Publique -Hopitaux De Paris (8)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

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

2015

  1. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Clinical Epigenetics, Vol. 7, Núm. 1

2013

  1. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with gnas epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b

    Human Mutation, Vol. 34, Núm. 8, pp. 1172-1180