Associated Papers
Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.
Jiang R et al.
The American Journal of Case Reports, 2024
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 2022
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
Gitelman syndrome combined with complete growth hormone deficiency.
Min SR et al.
Annals of Pediatric Endocrinology & Metabolism, 2013
Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis.
Imashuku S et al.
Pediatric Reports, 2012
[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].
Okada H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Riveira-Munoz E et al.
Journal of the American Society of Nephrology : Jasn, 2007
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption.
Mizumori Y et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
A case of Gitelman's syndrome with decreased angiotensin II-forming activity.
Eto K et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006
Two Japanese patients with gitelman syndrome.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
Functional confirmation of Gitelman's syndrome mutations in Japanese.
Naraba H et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2005
A high prevalence of Gitelman's syndrome mutations in Japanese.
Tago N et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML et al.
Human Mutation, 2002
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
Tajima T et al.
Endocrine Journal, 2002
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
Monkawa T et al.
Journal of the American Society of Nephrology : Jasn, 2000
Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.
Takeuchi K et al.
The Journal of Clinical Endocrinology and Metabolism, 1996