Associated Papers
An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
Chondrogianni ME et al.
Hormones (athens, Greece), 2025
A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.
Conigrave AD et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
London S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
Sastre A et al.
The New England Journal of Medicine, 2021
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Osteomalacia in a Case of Adult-Onset Bartter Syndrome.
Khan RN et al.
European Journal of Case Reports in Internal Medicine, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.
Choi KH et al.
Korean Journal of Pediatrics, 2015
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