Associated Papers
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 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 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
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D et al.
Genes, 2022
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y et al.
Pediatric Nephrology (berlin, Germany), 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J et al.
European Journal of Human Genetics : Ejhg, 2021
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y et al.
European Journal of Human Genetics : Ejhg, 2020
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.
Khalil A et al.
Bmc Medical Genetics, 2020
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá MJ et al.
Clinical Genetics, 2015
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.
Drmanac R et al.
Science (new York, N.y.), 2010
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
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
Rana K et al.
Pediatric Nephrology (berlin, Germany), 2007
COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).
Wang YY et al.
Kidney International, 2004
Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza M et al.
Kidney International, 2003
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0