Publicaciones en colaboración con investigadores/as de Assistance Publique -Hopitaux De Paris (28)

2024

  1. Rate of recurrence after discontinuing anticoagulation in patients with venous thromboembolism within 30 days after COVID-19 vaccine

    European Journal of Clinical Investigation

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

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

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

  3. The value of the CHAP model for prediction of the bleeding risk in patients with unprovoked venous thromboembolism: Findings from the RIETE registry

    Thrombosis Research

2021

  1. Corrigendum to “Translating big data to better treatment in bipolar disorder - a manifesto for coordinated action [European Neuropsychopharmacology (2020) 36, 121–136]” (European Neuropsychopharmacology (2020) 36 (121–136), (S0924977X20301802), (10.1016/j.euroneuro.2020.05.006))

    European Neuropsychopharmacology

  2. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

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

  2. Translating big data to better treatment in bipolar disorder - a manifesto for coordinated action

    European Neuropsychopharmacology, Vol. 36, pp. 121-136

2019

  1. Association between solar insolation and a history of suicide attempts in bipolar I disorder

    Journal of Psychiatric Research, Vol. 113, pp. 1-9

  2. Predictors of 1-year compliance with adaptive servoventilation in patients with heart failure and sleep disordered breathing: Preliminary data from the ADVENT-HF trial

    European Respiratory Journal

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

2017

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

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

  2. Solar insolation in springtime influences age of onset of bipolar I disorder

    Acta Psychiatrica Scandinavica, Vol. 136, Núm. 6, pp. 571-582

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

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

  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

2015

  1. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study

    European Journal of Human Genetics, Vol. 23, Núm. 4, pp. 438-444