Associated Papers
Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.
Guazzarotti L et al.
Endocrine Connections, 2025
Loss-of-function Gαs rare disease variants exert mutation-specific effects on GPCR signaling.
Redfern-Nichols T et al.
Science Signaling, 2025
Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.
Wang X et al.
Frontiers in Endocrinology, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
Chu X et al.
Clinical Endocrinology, 2018
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
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
Joseph AW et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.
Germain-Lee EL
Pediatric Endocrinology Reviews : Per, 2006
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
Germain-Lee EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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