Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
CYP24A1: the pivotal regulator of vitamin D homeostasis, pathophysiology in metabolic and genetic disease, and emerging target for precision medicine.
Jayathilaka NS et al.
Drug Metabolism Reviews, 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
Hypercalcemia in pregnancy secondary to pathogenic variants in CYP24A1.
Wong JYP et al.
Obstetric Medicine, 2025
Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.
Kulikova KS et al.
Problemy Endokrinologii, 2025
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
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
Hypercalcemia due to CYP24A1 variants in five unrelated patients: diagnostic and clinical considerations.
Sarvaideo JL et al.
Jbmr Plus, 2025
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 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
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
Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D.
Mohan S et al.
Jcem Case Reports, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 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
[New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood].
Zanchelli F et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 2023
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
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Vitamin D-dependent Hypercalcemia.
Schlingmann KP
Endocrinology and Metabolism Clinics of North America, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Infantile hypercalcaemia type 1: a vitamin D-mediated, under-recognised cause of hypercalcaemia.
Nizar R et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.
Hanna C et al.
Kidney International Reports, 2021
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC et al.
American Journal of Medical Genetics. Part A, 2021
Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
Brancatella A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
Rousseau-Nepton I et al.
Hormone Research in Paediatrics, 2021
Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.
Gurevich E et al.
Frontiers in Pediatrics, 2021
Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
Mirea AM et al.
European Journal of Medical Genetics, 2020
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Griffin TP et al.
Endocrine Connections, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.
Arnold N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants.
McBride L et al.
Kidney International Reports, 2019
Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia.
Hedberg F et al.
Journal of the Endocrine Society, 2019
Rare cause of maternal and neonatal hypercalcaemia.
McBride L et al.
Journal of Paediatrics and Child Health, 2019
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.
Sun Y et al.
Fetal and Pediatric Pathology, 2019
Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature.
Cappellani D et al.
Case Reports in Endocrinology, 2019
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
De Paolis E et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
Madsen JOB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
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