Associated Papers
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.
Ma F et al.
Bmc Nephrology, 2025
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O et al.
Cen Case Reports, 2024
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L et al.
Nephron, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
Qin YZ et al.
World Journal of Clinical Cases, 2022
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Jiang L et al.
Endocrine Connections, 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
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.
Shen Q et al.
Clinical Genetics, 2021
Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.
Zhang L et al.
Frontiers in Pediatrics, 2021
Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He G et al.
Medicine, 2020
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q et al.
Journal of Endocrinological Investigation, 2016
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.
Liu T et al.
American Journal of Nephrology, 2016
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.
Lo YF et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
[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
Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.
Hsu YJ et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
A thiazide test for the diagnosis of renal tubular hypokalemic disorders.
Colussi G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2007
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis.
Cheng NL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2003
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