Associated Papers
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.
Tomás-Simó P et al.
Nephrology (carlton, Vic.), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
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
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
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
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
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.
Liu T et al.
American Journal of Nephrology, 2016
[Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia].
Ryšavá R et al.
Vnitrni Lekarstvi, 2016
Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L et al.
Acta Biochimica Et Biophysica Sinica, 2015
Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.
Bouchireb K et al.
Bmc Pediatrics, 2014
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 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
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
Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.
Miao Z et al.
European Journal of Endocrinology, 2009
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 SLC12A3 mutations in Chinese patients with Gitelman's syndrome.
Shao L et al.
Nephron. Physiology, 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
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
A serum potassium level above 10 mmol/l in a patient predisposed to hypokalemia.
Phillips DR et al.
Nature Clinical Practice. Nephrology, 2006
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
Two Japanese patients with gitelman syndrome.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
Hypertension in a patient with Gitelman's syndrome.
Ogihara T et al.
Journal of Human Hypertension, 2004
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
Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.
De Jong JC et al.
Journal of the American Society of Nephrology : Jasn, 2002
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
Melander O et al.
Hypertension (dallas, Tex. : 1979), 2000
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
It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia.
Brambilla G et al.
Journal of Nephrology, 0