Associated Papers
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
Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
Yang L et al.
Medicine, 2023
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.
Xun Z et al.
International Journal of General Medicine, 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
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf
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
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf
Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
Zahed H et al.
The Journal of Pediatrics, 2017
Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L et al.
Acta Biochimica Et Biophysica Sinica, 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
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
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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