Associated Papers
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report.
Bennati G et al.
Pharmaceuticals (basel, Switzerland), 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
Eltan M et al.
Calcified Tissue International, 2022
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Vall-Palomar M et al.
Pediatric Nephrology (berlin, Germany), 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis .
Zhang H et al.
Clinical Nephrology, 2019
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Perdomo-Ramirez A et al.
Gene, 2019
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.
Perdomo-Ramirez A et al.
Bmc Medical Genetics, 2019
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Claverie-Martin F
Clinical Kidney Journal, 2015
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Martin-Nuñez E et al.
World Journal of Pediatrics : Wjp, 2015
Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
Claverie-Martín F et al.
European Journal of Human Genetics : Ejhg, 2015
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2012
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
Kasapkara CS et al.
Genetic Counseling (geneva, Switzerland), 2011
Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
Vargas-Poussou R et al.
Pediatric Nephrology (berlin, Germany), 2008
Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle.
Blanchard A et al.
Kidney International, 2001
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
Staiger K et al.
Journal of Nephrology, 0