Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Marinakis NM et al.
Clinical Genetics, 2026
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Elaraby NM et al.
Molecular and Cellular Pediatrics, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Hereditary disorders of vitamin-D metabolism and its receptor.
Lainis V et al.
Hormones (athens, Greece), 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 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
Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.
Leszczyńska D et al.
Frontiers in Endocrinology, 2024
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
Brancatella A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Janiec A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
Mirea AM et al.
European Journal of Medical Genetics, 2020
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Pronicka E et al.
Journal of Applied Genetics, 2017
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