Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
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
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
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.
Xu J et al.
Bmc Nephrology, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.
Xun Z et al.
International Journal of General Medicine, 2023
The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.
Yin Y et al.
Frontiers in Endocrinology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Zhang X et al.
Clinical Genetics, 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 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
Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.
Shen Q et al.
Clinical Genetics, 2021
Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.
Zhang L et al.
Frontiers in Pediatrics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Gitelman syndrome combined with growth hormone deficiency: Three cases report.
Huang K et al.
Medicine, 2019
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
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F et al.
Journal of Endocrinological Investigation, 2019
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR et al.
Clinical Kidney Journal, 2018
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
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