Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
Familial Renal Glucosuria and Potential Pharmacogenetic Impact on Sodium-Glucose Cotransporter-2 Inhibitors.
Allaire P et al.
Kidney360, 2025
39412882 (PubMed )
Supplement: kidney360-6-521-s005.xlsx › Table_S2._SLC5A2_Variants
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Genetic and clinical characterization of familial renal glucosuria.
Xu L et al.
Clinical Kidney Journal, 2024
38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx
Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.
Ren Q et al.
Journal of Diabetes, 2022
35229480 (PubMed )
Supplement: JDB-14-216-s001.xlsx › Sheet1
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Li S et al.
Molecular Medicine Reports, 2019
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi M et al.
Molecular Biology Reports, 2018
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Salloum R et al.
Acta Neuropathologica Communications, 2017
29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG11
Effect of kidney disease on glucose handling (including genetic defects).
Calado J et al.
Kidney International. Supplement, 2011
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.
Parigger T et al.
Technology in Cancer Research & Treatment, 0
38766867 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338241252706.xlsx › biopsy_mutations
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