Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
The genetics of cystinuria - an update and critical reevaluation.
Abad Baucells C et al.
Current Opinion in Nephrology and Hypertension, 2024
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C et al.
International Journal of Molecular Sciences, 2023
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Wu CW et al.
Urolithiasis, 2023
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.
Pandey B et al.
Journal of Biomolecular Structure & Dynamics, 2021
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li C et al.
Frontiers in Genetics, 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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
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
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.
Mizukami K et al.
Plos One, 2016
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Feline cystinuria caused by a missense mutation in the SLC3A1 gene.
Mizukami K et al.
Journal of Veterinary Internal Medicine, 2015
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Bisceglia L et al.
Molecular Genetics and Metabolism, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A et al.
Molecular Genetics and Metabolism, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Louizou E et al.
Human Genetics, 2007
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
Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.
Guillén M et al.
Clinical 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