Publikationen in Zusammenarbeit mit Forschern von University of Milan (24)

2024

  1. Clinical predictors and psychosocial risk factors of suicide attempt severity

    Spanish Journal of Psychiatry and Mental Health

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. Correction to: Dietary folate intake and metabolic syndrome in participants of PREDIMED‑Plus study: a cross‑sectional study (European Journal of Nutrition, (2021), 60, 2, (1125-1136), 10.1007/s00394-020-02364-4)

    European Journal of Nutrition

  2. Dietary folate intake and metabolic syndrome in participants of PREDIMED-Plus study: a cross-sectional study

    European Journal of Nutrition, Vol. 60, Núm. 2, pp. 1125-1136

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

    BJS Open

  4. 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

  5. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

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

2019

  1. Isotemporal substitution of inactive time with physical activity and time in bed: Cross-sectional associations with cardiometabolic health in the PREDIMED-Plus study

    International Journal of Behavioral Nutrition and Physical Activity, Vol. 16, Núm. 1

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. 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

  2. Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms

    Journal of Clinical Endocrinology and Metabolism, Vol. 100, Núm. 4, pp. E681-E687

2013

  1. Clinical utility gene card for: Pseudohypoparathyroidism

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

  2. Non-AIDS defining cancers in the D:A:D Study - time trends and predictors of survival: A cohort study

    BMC Infectious Diseases, Vol. 13, Núm. 1