INVESTIGACIÓN EN ENFERMEDADES RARAS
University of Lubeck
Lubeca, AlemaniaPublications en collaboration avec des chercheurs de University of Lubeck (9)
2021
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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
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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
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
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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
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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
Clinical Epigenetics, Vol. 8, Núm. 1, pp. 1-12
2015
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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
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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
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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
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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