Associated Papers
Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
Szubert I et al.
Current Issues in Molecular Biology, 2026
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Transport and thiazide-inhibition mechanisms of the Na-Cl cotransporter: a structural perspective.
Lee CL et al.
Current Opinion in Nephrology and Hypertension, 2025
Pregnancy complicated with Gitelman syndrome: A case report and literature review.
Zhang L et al.
Medicine, 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
Gitelman syndrome with diabetes and kidney stones: A case report.
Wu H et al.
Medicine, 2025
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
He T et al.
Frontiers in Endocrinology, 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
Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.
Arce A et al.
Sage Open Medical Case Reports, 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
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
Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.
Zhang Y et al.
The American Journal of Case Reports, 2024
Gitelman syndrome with primary hyperparathyroidism: A case report.
Yu S et al.
Medicine, 2024
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report.
Qiao Y et al.
Medicine, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Lee JY et al.
Annals of Human Genetics, 2024
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.
Fang D et al.
Frontiers in 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
[Clinical and genetic analysis of a case of Gitelman syndrome with comorbid Graves disease and adrenocortical adenoma].
Qiao Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Ying Q et al.
Clinical Endocrinology, 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
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic 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
Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.
Guo W et al.
Journal of 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.
Xun Z et al.
International Journal of General Medicine, 2023
Molecular complexity analysis of the diagnosis of Gitelman syndrome in China.
Song W et al.
Open Life Sciences, 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
R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Li Z et al.
Frontiers of 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