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
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
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P et al.
Brain : a Journal of Neurology, 2024
Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.
Liu C et al.
Bmc Medical Genomics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature.
Kopadze S et al.
Radiology Case Reports, 2021
Long-term outcome among females with Alport syndrome from a single pediatric center.
Goka S et al.
Pediatric Nephrology (berlin, Germany), 2021
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L et al.
Clinical Genetics, 2017
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP et al.
European Journal of Human Genetics : Ejhg, 2017
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
Kovács G et al.
Plos One, 2016
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M et al.
Kidney International, 2007