Associated Papers
Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.
Loderbauer L et al.
Kidney International Reports, 2026
Nutcracker syndrome in an Alport family: a tricky case.
Schmidt SH et al.
Wiener Klinische Wochenschrift, 2025
A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN.
Ozcan SG et al.
Bmc Nephrology, 2025
Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.
Malarska M et al.
Journal of Nephrology, 2025
Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.
Chang AR et al.
Seminars in Nephrology, 2025
High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.
Koľvek G et al.
Biomedicines, 2025
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.
Cerkauskaite-Kerpauskiene A et al.
International Journal of Molecular Sciences, 2025
A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5.
Andrejašič N et al.
Pediatric Nephrology (berlin, Germany), 2025
Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants.
Zellers M et al.
Journal of the American Society of Nephrology : Jasn, 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
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.
Lim TST et al.
Scientific Reports, 2025
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Lujinschi ȘN et al.
Genes, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
Yavas C et al.
Molecular Syndromology, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 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
Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.
Kim JH et al.
Scientific Reports, 2023
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M et al.
Genes, 2023
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Alge JL et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X et al.
Journal of the American Society of Nephrology : Jasn, 2023
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P et al.
Frontiers in Medicine, 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
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D et al.
Genes, 2022
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Boeckhaus J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Digenic Alport Syndrome.
Savige J et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2022
A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.
Gibson JT et al.
Kidney International Reports, 2022