Associated Papers
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
41057907 (PubMed )
Supplement: 40246_2025_828_MOESM1_ESM.pdf
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf
Gitelman syndrome with normocalciuria - a case report.
Flisiński M et al.
Bmc Nephrology, 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
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
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
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
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Outcome of pregnancy in a patient with Gitelman syndrome: a case report.
Talaulikar GS et al.
Nephron. Physiology, 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
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