Author Nagel, Mato
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2018 | Journal Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Savige, J.; Ariani, F.; Mari, F.; Bruttini, M.; Renieri, A.; Gross, O. & Deltas, C. et al. (2018)
Pediatric Nephrology, 34(7) pp. 1175-1189. DOI: https://doi.org/10.1007/s00467-018-3985-4
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2019 | Journal Article |
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Macheroux, E. P.; Braunisch, M. C.; Pucci Pegler, S.; Satanovskij, R.; Riedhammer, K. M.; Günthner, R. & Gross, O. et al. (2019)
Frontiers in Pediatrics, 7. DOI: https://doi.org/10.3389/fped.2019.00485
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2019 | Journal Article | Research Paper |
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
Frese, J.; Kettwig, M.; Zappel, H.; Hofer, J.; Gröne, H.-J.; Nagel, M. & Sunder-Plassmann, G. et al. (2019)
International Journal of Molecular Sciences, 20(3) art. 519. DOI: https://doi.org/10.3390/ijms20030519
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2022 | Journal Article
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study
Boeckhaus, J.; Hoefele, J.; Riedhammer, K. M; Nagel, M.; Beck, B. B; Choi, M. & Gollasch, M. et al. (2022)
Nephrology Dialysis Transplantation, art. gfac006. DOI: https://doi.org/10.1093/ndt/gfac006
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