Associated Papers
Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.
Karakaş H et al.
Molecular Syndromology, 2025
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
Charoenngam N et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Genetics of hereditary forms of primary hyperparathyroidism.
English KA et al.
Hormones (athens, Greece), 2024
The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.
Özgüç Çömlek F et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Bernardor J et al.
Frontiers in Pediatrics, 2022
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.
Leunbach TL et al.
Bone Reports, 2021
Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.
Wen T et al.
Science Advances, 2021
Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.
Palmieri S et al.
Frontiers in Medicine, 2021
Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Khairi S et al.
Hormones & Cancer, 2020
Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.
Gulcan-Kersin S et al.
Hormone Research in Paediatrics, 2020
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.
Carlsson ER et al.
Case Reports in Endocrinology, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B et al.
European Journal of Endocrinology, 2016
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.
Murphy H et al.
European Journal of Medical Genetics, 2016
Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism.
Corrado KR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.
Fisher MM et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
Wolf P et al.
The Journal of Clinical Endocrinology and Metabolism, 2014