Associated Papers
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Gitelman syndrome patient managed with amiloride during pregnancy and lactation.
Ibrahim A et al.
Bmc Nephrology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.
Wang Y et al.
Acta Epileptologica, 2023
Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.
Bi Y et al.
Medicine, 2023
Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
Yang L et al.
Medicine, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.
Zieg J et al.
Frontiers in Pediatrics, 2023
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 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
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
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.
Zheng X et al.
Clinical Nephrology, 2021
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 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
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.
Alexandru M et al.
Journal of Clinical Medicine, 2020
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report.
Stewart D et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.
Ravarotto V et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
Gitelman syndrome and primary hyperparathyroidism: a rare association.
Rego T et al.
Bmj Case Reports, 2018
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR et al.
Clinical Kidney Journal, 2018
Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
Zahed H et al.
The Journal of Pediatrics, 2017
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
[Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia].
Ryšavá R et al.
Vnitrni Lekarstvi, 2016
Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension.
Calò LA et al.
International Journal of Clinical and Experimental Medicine, 2015
Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients.
Calò LA et al.
Journal of Hypertension, 2014
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
SIRT1, heme oxygenase-1 and NO-mediated vasodilation in a human model of endogenous angiotensin II type 1 receptor antagonism: implications for hypertension.
Davis PA et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2013
Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements.
Berry MR et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B et al.
European Journal of Human Genetics : Ejhg, 2012
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
Urbanová M et al.
Folia Biologica, 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
Gitelman syndrome.
Roser M et al.
Hypertension (dallas, Tex. : 1979), 2009
Myocardial perfusion defects in Bartter and Gitelman syndromes.
Scognamiglio R et al.
European Journal of Clinical Investigation, 2008
Silencing regulator of G protein signaling-2 (RGS-2) increases angiotensin II signaling: insights into hypertension from findings in Bartter's/Gitelman's syndromes.
Calò LA et al.
Journal of Hypertension, 2008
Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure.
Fava C et al.
Human Molecular Genetics, 2008
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
Fava C et al.
Dna Sequence : the Journal of Dna Sequencing and Mapping, 2007
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