Publicaciones en colaboración con investigadores/as de University of Lubeck (9)

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

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. 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

2011

  1. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1864-1870

2010

  1. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373