Associated Papers
Association between calcium-Sensing receptor gene polymorphisms and urinary calcium stone formation in the Han Chinese population from a High-Altitude region (Kunming) in China.
Hou J et al.
Urolithiasis, 2026
Idiopathic Infantile Hypercalcaemia-Genetic, Biochemical and Clinical Outcomes in a Small Cohort.
Amato LA et al.
Clinical Endocrinology, 2025
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Calcium-sensing receptor signaling - How human disease informs biology.
Gorvin CM
Current Opinion in Endocrine and Metabolic Research, 2021
Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.
Atmoko W et al.
Plos One, 2021
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.
Fujino S et al.
Genes, 2017
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Andreoletti G et al.
Journal of Medical Genetics, 2017
Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.
Guha M et al.
Plos One, 2015
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
Park SY et al.
Journal of Korean Medical Science, 2013
Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis.
Shakhssalim N et al.
Scandinavian Journal of Urology and Nephrology, 2010
Calcium kidney stones are associated with a haplotype of the calcium-sensing receptor gene regulatory region.
Vezzoli G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Genetic variation in calcium-sensing receptor and risk for colon cancer.
Dong LM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
Kapoor A et al.
Annals of Neurology, 2008
Calcium-sensing receptor gene polymorphism Arg990Gly and its possible effect on response to cinacalcet HCl.
Rothe HM et al.
Pharmacogenetics and Genomics, 2005