Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
García-Castaño A et al.
Scientific Reports, 2023
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
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report.
Wang CL
World Journal of Clinical Cases, 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
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 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
[Compound heterocygosis for intron 9 + 1 g > T and Leu850pro mutations in the SLC12A3 gene in Gitelman's syndrome].
García Pérez A et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2008
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.
Urbanová M et al.
Kidney & Blood Pressure Research, 2006
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
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Lemmink HH et al.
Kidney International, 1998
The molecular genetic approach to "Bartter's syndrome".
Károlyi L et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Mastroianni N et al.
American Journal of Human Genetics, 1996
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
Gil-Peña H et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0