Publicaciones en colaboración con investigadoras/es de University of Lubeck (12)

2023

  1. Mechanism of antibody-specific deglycosylation and immune evasion by Streptococcal IgG-specific endoglycosidases

    Nature communications, Vol. 14, Núm. 1, pp. 1705

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. The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

    Cells, Vol. 9, 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

2016

  1. Analysis of plasminogen genetic variants in multiple sclerosis patients

    G3: Genes, Genomes, Genetics, Vol. 6, Núm. 7, pp. 2073-2079

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

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

2015

  1. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Journal of Medical Genetics, Vol. 52, Núm. 12, pp. 848-855

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

1999

  1. NMR experiments reveal distinct antibody-bound conformations of a synthetic disaccharide representing a general structural element of bacterial lipopolysaccharide epitopes

    Biochemistry, Vol. 38, Núm. 20, pp. 6449-6459