Publicaciones en colaboración con investigadores/as de University of Paris-Saclay (10)

2023

  1. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

  2. Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

    European journal of endocrinology, Vol. 189, Núm. 1, pp. 123-131

2021

  1. Inactivating PTH/PTHrP signaling disorders (iPPSDs): Evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

    European Journal of Endocrinology, Vol. 184, Núm. 2, pp. 311-320

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

2017

  1. Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

    Human Molecular Genetics, Vol. 26, Núm. 20, pp. 3883-3894

2016

  1. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    European Journal of Endocrinology, Vol. 175, Núm. 6, pp. P1-P17

  2. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 734-742

  3. The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 10, pp. 3657-3668