Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.
Malarska M et al.
Journal of Nephrology, 2025
High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.
Koľvek G et al.
Biomedicines, 2025
Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing.
Shen Y et al.
The American Journal of Case Reports, 2025
A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.
Zeng M et al.
Kidney International Reports, 2025
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM et al.
Kidney International Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants.
Zellers M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
Christodoulaki V et al.
Genes, 2024
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features.
Bergeron NAD et al.
Journal of Nephrology, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2022
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 2021
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.
Zhang L et al.
Bmc Nephrology, 2020
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2019
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
Genetic testing can resolve diagnostic confusion in Alport syndrome.
Adam J et al.
Clinical Kidney Journal, 2014
Molecular testing for adult type Alport syndrome.
Pont-Kingdon G et al.
Bmc Nephrology, 2009
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Hertz JM et al.
Clinical Genetics, 2008
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0