Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
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
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
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Rescue of tight junctional localization of a claudin-16 mutant D97S by antimalarial medicine primaquine in Madin-Darby canine kidney cells.
Marunaka K et al.
Scientific Reports, 2019
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 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
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Lv F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.
Braun DA et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2016
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
Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.
Yamaguti PM et al.
Bmc Nephrology, 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
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Sikora P et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
Deeb A et al.
Bmc Research Notes, 2013
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO et al.
Pediatric Nephrology (berlin, Germany), 2013
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
Claudins in renal physiology and disease.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2011
The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.
Haisch L et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
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
Inherited forms of renal hypomagnesemia: an update.
Knoers NV
Pediatric Nephrology (berlin, Germany), 2009
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.
Peru H et al.
Pediatric Nephrology (berlin, Germany), 2008
Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
Hou J et al.
The Journal of Clinical Investigation, 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
Paracellin-1 and the modulation of ion selectivity of tight junctions.
Hou J et al.
Journal of Cell Science, 2005
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.
Tasic V et al.
Pediatric Nephrology (berlin, Germany), 2005
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.
Wolf MT et al.
Pediatric Nephrology (berlin, Germany), 2002
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
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber S et al.
European Journal of Human Genetics : Ejhg, 2000
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
Staiger K et al.
Journal of Nephrology, 0
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia.
Peco-Antić A et al.
Srpski Arhiv Za Celokupno Lekarstvo, 0