Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
First case report in China of Gitelman syndrome associated with ileocecal polyps in a child: a case report.
Wang Y et al.
Bmc Pediatrics, 2025
The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.
Ma F et al.
Bmc Nephrology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Wang N et al.
Orphanet Journal of Rare Diseases, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Gitelman syndrome in a pediatric patient: a case report and literature review.
Sun T et al.
Frontiers in Pediatrics, 2025
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
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
[Genetic analysis of two patients with Gitelman syndrome].
Li Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.
Wang Y et al.
Acta Epileptologica, 2023
Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.
Bi Y et al.
Medicine, 2023
Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
Yang L et al.
Medicine, 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
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L et al.
Nephron, 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
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 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
A case of Gitelman syndrome with membranous nephropathy.
Guo X et al.
Bmc Nephrology, 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
Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
Xie R et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
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
Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.
Liu X et al.
Frontiers in Genetics, 2022
Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Wang F et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2021
Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome.
Wang T et al.
Qjm : Monthly Journal of the Association of Physicians, 2021
Exome-based preconception carrier testing for consanguineous couples in China.
He Y et al.
Prenatal Diagnosis, 2021
Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.
Zheng X et al.
Clinical Nephrology, 2021
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 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
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.
Zhang L et al.
Frontiers in Pediatrics, 2021
Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient.
Zhong M et al.
International Journal of General Medicine, 2021
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.
Alexandru M et al.
Journal of Clinical Medicine, 2020
Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort.
Zhang L et al.
Nephrology (carlton, Vic.), 2020
A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.
Yang M et al.
Genes & Genomics, 2020
Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.
Chen H et al.
Bmc Pediatrics, 2020
A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.
Wang X et al.
Endocrine, 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