Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Clinical evaluation and molecular analysis of genetic and epigenetic inactivation defects in GNAS in children: A multicenter experience in China.
Xu X et al.
European Journal of Endocrinology, 2025
Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S et al.
European Journal of Endocrinology, 2023
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
Chang G et al.
Bmc Endocrine Disorders, 2022
Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.
Mazoni L et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.
Han SR et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2021
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
Crane JN et al.
Pediatric Blood & Cancer, 2020
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
Chu X et al.
Clinical Endocrinology, 2018
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
Elli FM et al.
Bone, 2013
Select a paper to view details