Associated Papers
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.
Jones G et al.
Journal of Endocrinological Investigation, 2024
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
38544324 (PubMed )
Supplement: gfae074_Supplemental_Files.zip › Suppl_Table_2.xlsx › Suppl_Variant_Table
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Griffin TP et al.
Endocrine Connections, 2020
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Gigante M et al.
Nephron, 2016
Acquired initiating mutations in early hematopoietic cells of CLL patients.
Damm F et al.
Cancer Discovery, 2014
24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL17
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