Associated Papers
Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.
Liu R et al.
Cen Case Reports, 2026
Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.
Kawamoto R et al.
Journal of Nephrology, 2025
Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.
Chen JY et al.
Scientific Reports, 2025
A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity.
Duan J et al.
Biorxiv : the Preprint Server for Biology, 2024
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
Screening of genes interacting with high myopia and neuropsychiatric disorders.
Liu Y et al.
Scientific Reports, 2023
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Outcome of females with Alport syndrome.
Koyun M et al.
Pediatric Nephrology (berlin, Germany), 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT et al.
Scientific Reports, 2022
Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families.
Guo R et al.
Frontiers in Genetics, 2022
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 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
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients.
Wu B et al.
Heart and Vessels, 2021
Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.
Nozu K et al.
Kidney Research and Clinical Practice, 2020
Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.
Chiou HC et al.
Neoplasia (new York, N.y.), 2020
Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.
Kamura M et al.
Kidney International Reports, 2020
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
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
Sun Y et al.
Bmc Medical Genomics, 2019
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.
Ganesh S et al.
Psychiatry and Clinical Neurosciences, 2019
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D et al.
Bmc Medical Genetics, 2018
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.
Miao Y et al.
Clinical Science (london, England : 1979), 2017
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 2017
[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].
Chen YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury.
Randles MJ et al.
Scientific Reports, 2016
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J et al.
Plos One, 2016
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Lennon R et al.
Pediatric Nephrology (berlin, Germany), 2015
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA et al.
Journal of Medical Genetics, 2015
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.
Wang F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.
Zhang KW et al.
Pediatric Nephrology (berlin, Germany), 2008
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
Wang F et al.
Kidney International, 2005
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999