Associated Papers
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Lujinschi ȘN et al.
Genes, 2024
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
37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments.
Yeo J et al.
Biomaterials, 2020
Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
Gillion V et al.
Kidney International Reports, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
Baikara BT et al.
Plos One, 2015
The clinical spectrum of type IV collagen mutations.
Lemmink HH et al.
Human Mutation, 1997
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A et al.
American Journal of Human Genetics, 1996
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