Associated Papers
Significance of GNAS mutations for morbid obesity in children.
Salakhov RR et al.
Human Genomics, 2025
Six cases of ectopic cutaneous ossification associated with GNAS gene variants.
Zhang C et al.
European Journal of Dermatology : Ejd, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
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
Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.
Wang X et al.
Frontiers in Endocrinology, 2025
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.
Cipriano L et al.
International Journal of Molecular Sciences, 2024
Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 of GNAS: a case report.
Jiang L et al.
American Journal of Translational Research, 2024
Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S et al.
European Journal of Endocrinology, 2023
Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.
Itoh M et al.
Bone Reports, 2022
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
Chang G et al.
Bmc Endocrine Disorders, 2022
Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.
Ozaki K et al.
Endocrine, 2021
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E et al.
The New England Journal of Medicine, 2021
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
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Swieringa F et al.
Scientific Reports, 2020
A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature.
Brancatella A et al.
Endocrine, 2020
Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation.
Kagami R et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
Chu X et al.
Clinical Endocrinology, 2018
Pseudohypoparathyroidism: one gene, several syndromes.
Tafaj O et al.
Journal of Endocrinological Investigation, 2017
[Clinical and radiological findings in a case of pseudohypoparathyroidism type 1a. Albright hereditary osteodystrophy].
Sanz-Fernández M et al.
Anales De Pediatria (barcelona, Spain : 2003), 2015
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
Endochondral ossification in a case of progressive osseous heteroplasia in a young female child.
Schrander DE et al.
Journal of Pediatric Orthopedics. Part B, 2014
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.
Wu YL et al.
Plos One, 2014
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
Zazo C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Jin HY et al.
Clinical Endocrinology, 2011
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
Lebrun M et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
Lecumberri B et al.
Journal of Medical Genetics, 2010
Genetics of pseudohypoparathyroidism types Ia and Ic.
Aldred MA
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
de Sanctis L et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L et al.
Pediatric Research, 2003