Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk… - Nature Reviews …, 2018 - nature.com
Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
Pseudohypoparathyroidism: diagnosis and treatment
G Mantovani - The Journal of Clinical Endocrinology & …, 2011 - academic.oup.com
Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous
disorders whose common feature is represented by impaired signaling of various hormones …
disorders whose common feature is represented by impaired signaling of various hormones …
GNAS Spectrum of Disorders
S Turan, M Bastepe - Current osteoporosis reports, 2015 - Springer
The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
S Thiele, G Mantovani, A Barlier… - European Journal of …, 2016 - academic.oup.com
Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …
An update on the clinical and molecular characteristics of pseudohypoparathyroidism
MA Levine - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
An update on the clinical and molecular characteristics of p... : Current Opinion in
Endocrinology, Diabetes and Obesity An update on the clinical and molecular …
Endocrinology, Diabetes and Obesity An update on the clinical and molecular …
Molecular definition of pseudohypoparathyroidism variants
H Jüppner - The Journal of Clinical Endocrinology & …, 2021 - academic.oup.com
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are
caused by mutations and/or epigenetic changes at the complex GNAS locus on …
caused by mutations and/or epigenetic changes at the complex GNAS locus on …
Pseudohypoparathyroidism: one gene, several syndromes
O Tafaj, H Jüppner - Journal of Endocrinological Investigation, 2017 - Springer
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are
caused by mutations and/or epigenetic changes at the complex GNAS locus on …
caused by mutations and/or epigenetic changes at the complex GNAS locus on …
Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early‐onset obesity
P Hanna, V Grybek… - Journal of Bone and …, 2018 - academic.oup.com
ABSTRACT Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP
type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal …
type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal …
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic …
FM Elli, L de Sanctis, V Bollati… - The Journal of …, 2014 - academic.oup.com
Context: Pseudohypoparathyroidism type I (PHP-I) includes two main subtypes, PHP-Ia and-
Ib. About 70% of PHP-Ia patients, who show Albright hereditary osteodystrophy (AHO) …
Ib. About 70% of PHP-Ia patients, who show Albright hereditary osteodystrophy (AHO) …
GNAS-related loss-of-function disorders and the role of imprinting
A Linglart, S Maupetit-Méhouas, C Silve - Hormone research in …, 2013 - karger.com
GNAS (guanine nucleotide-binding protein, α stimulating) is a complex imprinted locus
coding, besides the α-stimulatory subunit of the G protein, the paternally (extra-large …
coding, besides the α-stimulatory subunit of the G protein, the paternally (extra-large …