Gitelman Syndrome
What's New
Last Posted: Sep 20, 2023
- Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Lijun Mou, et al. Clinical genetics 2023 0 - Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich Maria Helena, et al. Nephron 2023 0 1-18 - Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F, et al. Journal of endocrinological investigation 2018 0 (6) 653-665 - Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Yanmei, et al. Medical science monitor : international medical journal of experimental and clinical research 2019 0 5942-5952 - HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Adalat Shazia, et al. Kidney international reports 2019 0 (9) 1304-1311 - Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Blanchard Anne, et al. Journal of the American Society of Nephrology : JASN 2019 0 (8) 1534-1545 - [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].
Ma Qian, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (12) 1368-1370 - Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori Takayasu, et al. Human mutation 2020 0 (3) 300-309 - Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He Guangyu, et al. Medicine 2020 0 (29) e21123 - Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan Ming-Tso, et al. NPJ genomic medicine 2021 0 (1) 68
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 03, 2024
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