Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Gitelman syndrome patient managed with amiloride during pregnancy and lactation.
Ibrahim A et al.
Bmc Nephrology, 2024
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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 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
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
García-Castaño A et al.
Scientific Reports, 2023
Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
Yang L et al.
Medicine, 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
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Jiang L et al.
Endocrine Connections, 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 impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.
Chen H et al.
Bmc Pediatrics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Yang W et al.
Bmc Nephrology, 2018
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR et al.
Clinical Kidney Journal, 2018
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q et al.
Journal of Endocrinological Investigation, 2016
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.
Ma J et al.
American Journal of Nephrology, 2016
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
Tavira B et al.
Journal of Human Genetics, 2014
Clinical utility gene card for: Gitelman syndrome.
Knoers NV et al.
European Journal of Human Genetics : Ejhg, 2011
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
Hypokalaemia and failure to thrive: report of a misleading onset.
Conti G et al.
Journal of Paediatrics and Child Health, 2010
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.
Bouwer ST et al.
Kidney International, 2007
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
Gil-Peña H et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome.
Güvercin B et al.
Hippokratia, 0
Gitelman syndrome - A new mutation in the SLC12A3 gene.
Correia AL et al.
Nefrologia, 0