Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
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
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
Gogate A et al.
Npj Genomic Medicine, 2024
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT.
Trutin I et al.
Acta Clinica Croatica, 2022
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.
Hanna C et al.
Kidney International Reports, 2021
CYP24A1 deficiency causing persistent hypercalciuria in a stone former.
Sy-Go JPT et al.
Journal of Nephrology, 2021
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
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.
Sun Y et al.
Fetal and Pediatric Pathology, 2019
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Gigante M et al.
Nephron, 2016
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
Molin A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
Figueres ML et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Jobst-Schwan T et al.
Kidney & Blood Pressure Research, 2015
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013