Associated Papers
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.
Seven Menevse T et al.
Hormone Research in Paediatrics, 2024
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S et al.
European Journal of Endocrinology, 2016
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.
Wu YL et al.
Plos One, 2014
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.
Linglart A et al.
Hormone Research in Paediatrics, 2013
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Thiele S et al.
Human Mutation, 2011
Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.
Al-Salameh A et al.
European Journal of Endocrinology, 2010
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.
Linglart A et al.
Endocrinology, 2006
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
Linglart A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Select a paper to view details