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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P, Indrakova J, Savige J, Kuhnova P, Tvrda P, Cerna D, Hilscherova S, Kudrejova M, Polendova D, Jaklova R, Langova M, Jahnova H, Lastuvkova J, Dusek J, Gut J, Vlckova M, Solarova P, Kreckova G, Kantorova E, Soukalova J, Slavkovsky R, Zapletalova J, Tichy T, Thomasova D. Plevova P, et al. Among authors: savige j. Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844206 Free PMC article.
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Deltas C, et al. Among authors: savige j. Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. Genes (Basel). 2023. PMID: 37761826 Free PMC article. Review.
Ocular manifestations of the genetic renal tubulopathies.
Yang G, Mack H, Harraka P, Colville D, Savige J. Yang G, et al. Among authors: savige j. Ophthalmic Genet. 2023 Dec;44(6):515-529. doi: 10.1080/13816810.2023.2253901. Epub 2023 Sep 13. Ophthalmic Genet. 2023. PMID: 37702059 Review.
Ocular manifestations of renal ciliopathies.
Salehi O, Mack H, Colville D, Lewis D, Savige J. Salehi O, et al. Among authors: savige j. Pediatr Nephrol. 2024 May;39(5):1327-1346. doi: 10.1007/s00467-023-06096-5. Epub 2023 Aug 30. Pediatr Nephrol. 2024. PMID: 37644229 Free PMC article. Review.
233 results