Last Updated: 09/26/2026
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Found 138 publications
Infigratinib in Achondroplasia - A Potentially Giant Step Forward.
Journal: The New England journal of medicine
Published: September 02, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B).
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: February 16, 2026
Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.
Journal: JCI insight
Published: September 02, 2025
Fibroblast Growth Factor 23 Trajectories in Children and Association with CKD Progression: The CKD in Children Study.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: August 20, 2025
FGF23 Trajectories in Children and Association with CKD Progression: The Chronic Kidney Disease in Children Study.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: August 20, 2025
Treatment of Children and Adults With X-Linked Hypophosphatemia With Calcitriol Alone: A Prospective, Open-Label Study.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 08, 2025
Human diseases caused by homozygous PTH1R mutations.
Journal: Frontiers in endocrinology
Published: June 04, 2025
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 02, 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
Physiologic Homeostasis in a Living Human after Pig Kidney Xenotransplantation.
Journal: Nature communications
Published: April 08, 2025
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 23, 2025
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 22, 2024
Last Updated: 09/26/2026