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
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.
Malarska M et al.
Journal of Nephrology, 2025
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.
Pagniez MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Renal Phenotype Variations among Families with Autosomal Alport Syndrome: Potential Role of Modifier Genes.
Ibrahim A et al.
Kidney360, 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
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
Candidate Genetic Modifiers in Alport Syndrome: A Case Series.
Lujinschi ȘN et al.
Life (basel, Switzerland), 2025
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis.
Caparali EB et al.
Advances in Kidney Disease and Health, 2024
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Lim E et al.
Kidney International Reports, 2024
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Alport Syndrome: Clinical Spectrum and Therapeutic Advances.
Gregorio V et al.
Kidney Medicine, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach.
El Ters M et al.
Transplantation, 2023
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families.
Groen In 't Woud S et al.
Kidney Medicine, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Differences in genome, transcriptome, miRNAome, and methylome in synchronous and metachronous liver metastasis of colorectal cancer.
Horak J et al.
Frontiers in Oncology, 2023
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM et al.
Journal of Clinical Medicine, 2022
GWAS of Hematuria.
Gagliano Taliun SA et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2022
Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.
Barua M et al.
Pediatric Nephrology (berlin, Germany), 2022
Is It Time to Utilize Genetic Testing for Living Kidney Donor Evaluation?
Tantisattamo E et al.
Nephron, 2022
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J et al.
Frontiers in Medicine, 2022
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S et al.
Journal of Human Genetics, 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
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
Matthaiou A et al.
Clinical Kidney Journal, 2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Type IV Collagen Mutations in Familial IgA Nephropathy.
Li Y et al.
Kidney International Reports, 2020
Sequence variants associating with urinary biomarkers.
Benonisdottir S et al.
Human Molecular Genetics, 2019
Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
Gillion V et al.
Kidney International Reports, 2018
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.
Xu Y et al.
Scientific Reports, 2016
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Malone AF et al.
Kidney International, 2014
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
How benign is hematuria? Using genetics to predict prognosis.
Gale DP
Pediatric Nephrology (berlin, Germany), 2013