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Brachydactyly E: isolated or as a feature of a syndrome

artículo científico publicado en 2013

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

artículo científico publicado en 2016

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

artículo científico publicado en 2018

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

artículo científico publicado en 2020

Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome Suspicion

scientific article published on 05 December 2020

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

artículo científico publicado en 2015

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

artículo científico publicado en 2012

Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)

scientific article published on 28 September 2018

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification

artículo científico publicado en 2014

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

artículo científico publicado en 2016

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

artículo científico publicado en 2017

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