Associated Papers
Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
Szubert I et al.
Current Issues in Molecular Biology, 2026
The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa-let-7d-3p.
Chen CT et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
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
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
García-Castaño A et al.
Scientific Reports, 2023
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
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Zhang X et al.
Clinical Genetics, 2022
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Jiang L et al.
Endocrine Connections, 2022
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 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
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
Wan X et al.
Journal of the American Society of Nephrology : Jasn, 2021
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
Lazaro-Guevara J et al.
American Journal of Nephrology, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
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
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura J et al.
Kidney International Reports, 2019
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.
Li C et al.
Clinical Endocrinology, 2015
Corrigendum to "Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene".
Makino S et al.
Case Reports in Pediatrics, 2015
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
Tavira B et al.
Journal of Human Genetics, 2014
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.
Makino S et al.
Case Reports in Pediatrics, 2014
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Salin-Cantegrel A et al.
The Journal of Biological Chemistry, 2011
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
Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.
Nakamura A et al.
Clinical Endocrinology, 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
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
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
Gitelman's syndrome with mental retardation.
Morita R et al.
Internal Medicine (tokyo, Japan), 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
Diagnosis of a case of Gitelman's syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter.
Kageyama K et al.
Journal of Endocrinological Investigation, 2005
Functional confirmation of Gitelman's syndrome mutations in Japanese.
Naraba H et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2005
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
Maki N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
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
Depressive state and paresthesia dramatically improved by intravenous MgSO4 in Gitelman's syndrome.
Enya M et al.
Internal Medicine (tokyo, Japan), 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
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
Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.
Yahata K et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999