Associated Papers
Gitelman syndrome: diagnostic challenges and therapeutic strategies.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Wang N et al.
Orphanet Journal of Rare Diseases, 2025
Cardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.
Giordani AS et al.
Journal of Hypertension, 2025
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.
Zhang X et al.
Nephrology (carlton, Vic.), 2024
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Viering DHHM et al.
Journal of the American Society of Nephrology : Jasn, 2023
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
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
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.
Alexandru M et al.
Journal of Clinical Medicine, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
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
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
Syrén ML et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
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
Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice.
Nicolet-Barousse L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
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
Mutations in the Na-Cl cotransporter reduce blood pressure in humans.
Cruz DN et al.
Hypertension (dallas, Tex. : 1979), 2001