Associated Papers
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
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2008
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.
Kutluturk F et al.
Hormone Research, 2006
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S et al.
Journal of the American Society of Nephrology : Jasn, 2001
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
Staiger K et al.
Journal of Nephrology, 0
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