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Last Updated: 01/07/2026
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Found 1967 publications
Six cases of ectopic cutaneous ossification associated with GNAS gene variants.
Journal: European journal of dermatology : EJD
Published: September 18, 2025
Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.
Journal: JCI insight
Published: September 02, 2025
Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.
Journal: Hormones (Athens, Greece)
Published: June 19, 2025
Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism.
Journal: Journal of clinical medicine
Published: June 11, 2025
Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: June 09, 2025
Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.
Journal: Frontiers in genetics
Published: May 30, 2025
Loss-of-function Gαs rare disease variants exert mutation-specific effects on GPCR signaling.
Journal: Science signaling
Published: May 20, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
Journal: American journal of medical genetics. Part A
Published: April 28, 2025
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: April 18, 2025
Last Updated: 01/07/2026