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
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Candidate Genetic Modifiers in Alport Syndrome: A Case Series.
Lujinschi ȘN et al.
Life (basel, Switzerland), 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
A Pilot Study on Protective Effect of Ambrisentan on Proteinuria in Patients With Alport Syndrome.
Song ZR et al.
Kidney International Reports, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Lujinschi ȘN et al.
Genes, 2024
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X et al.
Medicine, 2023
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome.
Levy M et al.
Genes, 2023
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
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.
Shang S et al.
Molecular Genetics & Genomic Medicine, 2019
A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family.
Xia L et al.
Disease Markers, 2019
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.
Chiereghin C et al.
Plos One, 2017
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
Webb BD et al.
Clinical Genetics, 2014
[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].
Wang F et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
Zhang Y et al.
American Journal of Medical Genetics. Part A, 2012