Project Details
Description
The project investigates monogenic causes of hypertensive nephropathy in patients with early-onset end-stage renal disease. Further, novel approaches to functional characterization of genetic variants are explored.
| Status | Finished |
|---|---|
| Effective start/end date | 01/11/2021 → 12/02/2025 |
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Related research output
- 3 Journal article
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Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger
Granhøj, J., Aagaard, M. M., Pedersen, K. V., Lildballe, D. L., Ørskov, B., Tougaard, B. G., Pausgaard, R. H., Brusgaard, K., Svenningsen, P., Birn, H. & Rasmussen, M., Nov 2025, In: Kidney International Reports. 10, 11, p. 3984-3997Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families
Granhøj, J., Lildballe, D. L., Pedersen, K. V., Tougaard, B. G., Sokol, M., Aagaard, M. M., Petersen, A. H., Kristensen, T., Djursby, M., Birn, H. & Rasmussen, M., Jan 2025, In: Clinical Kidney Journal. 18, 1, 11 p., sfae355.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile24 Downloads (Pure) -
The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years
Granhøj, J., Pedersen, K. V., Aagaard, M. M., Graakjaer, J. A., Lildballe, D. L., Birn, H. & Rasmussen, M., Jul 2024, In: Clinical Kidney Journal. 17, 7, 9 p., sfae166.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile61 Downloads (Pure)
Related activities
- 1 Talks and presentations in private or public companies
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Genetiske årsager til hypertensivt nyresvigt: Helgenomsekventering og funktionel karakterisering af genvarianter
Granhøj, J. (Guest lecturer)
13. Jun 2022Activity: Talks and presentations › Talks and presentations in private or public companies