Associated Papers
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
36938092 (PubMed )
Supplement: mmc1.pdf
The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.
Lin SC et al.
Biomedicines, 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
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
Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.
Valdez-Flores MA et al.
American Journal of Physiology. Renal Physiology, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2
[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
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