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The Journal of Clinical Endocrinology and Metabolism|March 7, 2021
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2Patrick Hanna, Bruno Francou, Brigitte Delemer, et al.
BMJ Case Reports|February 29, 2024
Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1BAnne-Marie Van der Biest, Harald Jüppner, Corina Andreescu, et al.
Kidney International|December 11, 2002
Parathyroid hormone (PTH), PTH-derived peptides, and new PTH assays in renal osteodystrophyWilliam G Goodman, Harald Jüppner, Isidro B Salusky, et al.
Kidney International|November 25, 2003
Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteersTobias Larsson, Ulf Nisbeth, Osten Ljunggren, et al.
American Journal of Physiology. Renal Physiology|May 16, 2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIcGraciana Jaureguiberry, Thomas O Carpenter, Stuart Forman, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 19, 2025
Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case ReportShilpa Sannapaneni, Sathya Krishnasamy, Monica Reyes, et al.
Bone|July 17, 2017
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/BMonica Reyes, Anara Karaca, Murat Bastepe, et al.
Bone|July 12, 2017
Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissuesOlta Tafaj, Steven Hann, Ugur Ayturk, et al.
American Journal of Human Genetics|April 1, 2005
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNASAgnès Linglart, Robert C Gensure, Robert C Olney, et al.
Endocrinology|February 24, 2007
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16Leopold F Fröhlich, Murat Bastepe, Defne Ozturk, et al.
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