Author Nagel, Mato

1 to 4 of 4 Items
  • 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 Nephrology34(7) pp. 1175​-1189​.​ DOI: https://doi.org/10.1007/s00467-018-3985-4 
    Details  DOI 
  • 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 Pediatrics7.​ DOI: https://doi.org/10.3389/fped.2019.00485 
    Details  DOI 
  • 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 Sciences20(3) art. 519​.​ DOI: https://doi.org/10.3390/ijms20030519 
    Details  DOI  PMID  PMC 
  • 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 
    Details  DOI 

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