Associated Papers
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
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L et al.
Pediatric Research, 2003
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