Associated Papers
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
38544324 (PubMed )
Supplement: gfae074_Supplemental_Files.zip › Suppl_Table_2.xlsx › Suppl_Variant_Table
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Marini F et al.
European Journal of Endocrinology, 2023
Metabolic and Genetic Evaluation in Children with Nephrolithiasis.
Mandal A et al.
Indian Journal of Pediatrics, 2022
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Amar A et al.
Human Genetics, 2019
Phosphate homeostasis disorders.
Christov M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2018
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.
Lapointe JY et al.
Kidney International, 2006
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