Associated Papers
Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.
Jiang R et al.
The American Journal of Case Reports, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O et al.
Cen Case Reports, 2024
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.
Xu J et al.
Bmc Nephrology, 2023
A case of advanced breast cancer with Gitelman syndrome.
Tanaka Y et al.
International Cancer Conference Journal, 2023
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 2022
The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.
Bezzeccheri A et al.
Reviews in Cardiovascular Medicine, 2022
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
Qin YZ et al.
World Journal of Clinical Cases, 2022
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
Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome.
Wang T et al.
Qjm : Monthly Journal of the Association of Physicians, 2021
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
Zhang JH et al.
Biomed Research International, 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
Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.
Zhou H et al.
Bmc Endocrine Disorders, 2018
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
Miao M et al.
Genetics and Molecular Research : Gmr, 2016
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q et al.
Journal of Endocrinological Investigation, 2016
Association of variants in renal salt reabsorption-related gene SLC12A3 with essential hypertension in a Mongolian population.
Liang JQ et al.
Genetics and Molecular Research : Gmr, 2015
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement.
Isobe K et al.
American Journal of Physiology. Renal Physiology, 2013
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.
Yagi H et al.
Internal Medicine (tokyo, Japan), 2011
A case of Gitelman syndrome associated with idiopathic intracranial hypertension.
Tsutsui H et al.
Internal Medicine (tokyo, Japan), 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
[Establishment of genetic testing for Gitelman's syndrome].
Nakayama T et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2010
[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project].
Yasujima M et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2009
Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.
Aoi N et al.
Endocrine Journal, 2008
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
Aoi N et al.
Endocrine, 2007
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Loss of consciousness and hypokalemia in an elderly man with a mutation of the thiazide-sensitive Na-Cl cotransporter gene.
Hashida T et al.
Endocrine Journal, 2006
A case of Gitelman's syndrome with decreased angiotensin II-forming activity.
Eto K et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006
Functional confirmation of Gitelman's syndrome mutations in Japanese.
Naraba H et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2005
The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.
Matayoshi T et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
Maki N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
A high prevalence of Gitelman's syndrome mutations in Japanese.
Tago N et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.
Kokubo Y et al.
Journal of Human Genetics, 2004
Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
Fukuyama S et al.
Kidney International, 2003
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 thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
Monkawa T et al.
Journal of the American Society of Nephrology : Jasn, 2000
A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations.
Ishikawa M et al.
Case Reports in Nephrology and Dialysis, 0