Associated Papers
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
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
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 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
Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
Ma J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
Wang F et al.
Kidney International, 2005
Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
Pan X et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
Barker DF et al.
American Journal of Medical Genetics, 2001
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
Detection of mutations in COL4A5 in patients with Alport syndrome.
Plant KE et al.
Human Mutation, 1999
The clinical spectrum of type IV collagen mutations.
Lemmink HH et al.
Human Mutation, 1997
The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.
Kawai S et al.
Kidney International, 1996
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0