Associated Papers
Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.
Karanfilovski V et al.
Balkan Journal of Medical Genetics : Bjmg, 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 2025
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
The genetics of cystinuria - an update and critical reevaluation.
Abad Baucells C et al.
Current Opinion in Nephrology and Hypertension, 2024
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
Identification of novel cystinuria mutations in pediatric patients.
Brauers E et al.
Journal of Pediatric Urology, 2006
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
Skopková Z et al.
Annals of Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes M et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.
Chatzikyriakidou A et al.
Genetic Testing, 2005
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Schmidt C et al.
Urological Research, 2004
Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.
Pineda M et al.
The Biochemical Journal, 2004
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
Botzenhart E et al.
Kidney International, 2002
[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach].
Rousaud F et al.
Archivos Espanoles De Urologia, 2001
Cystinuria type I: identification of eight new mutations in SLC3A1.
Bisceglia L et al.
Kidney International, 2001
Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.
Albers A et al.
Genetic Testing, 1999