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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 29, 2011
Mineral abnormalities and long-term graft function in pediatric renal transplant recipients: a role for FGF-23?Katherine Wesseling-Perry, Eileen W Tsai, Robert B Ettenger, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 30, 2010
Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-IbLeopold F Fröhlich, Maria Mrakovcic, Ralf Steinborn, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishmentJasmin Beygo, Joachim Bürger, Tim M Strom, et al.
Human Molecular Genetics|December 14, 2004
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemiaAnna Benet-Pagès, Peter Orlik, Tim M Strom, et al.
Frontiers in Pediatrics|April 23, 2020
GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish ChildrenPetra Loid, Minna Pekkinen, Monica Reyes, et al.
The Journal of Clinical Endocrinology and Metabolism|July 26, 2014
Lack of FGF23 response to acute changes in serum calcium and PTH in humansKatherine Wesseling-Perry, Hejing Wang, Robert Elashoff, et al.
Pediatric Nephrology (Berlin, Germany)|July 16, 2013
FGF23 and mineral metabolism in the early post-renal transplantation periodKatherine Wesseling-Perry, Renata C Pereira, Eileen Tsai, et al.
The Journal of Clinical Endocrinology and Metabolism|October 20, 2009
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosisClemens Bergwitz, Santanu Banerjee, Hilal Abu-Zahra, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2004
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutationMurat Bastepe, Annick Raas-Rothschild, Justin Silver, et al.
The Journal of Clinical Endocrinology and Metabolism|February 14, 2025
Jansen's disease: bone abnormalities beyond chondrodysplasiaRenata C Pereira, Anne M Delany, Monica Reyes, et al.
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