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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Solanki AK, et al. Among authors: hildebrandt f. Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10. Kidney Int. 2019. PMID: 31472902 Free PMC article.
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; APN Study Group. Ruf RG, et al. Among authors: hildebrandt f. Kidney Int. 2004 Aug;66(2):564-70. doi: 10.1111/j.1523-1755.2004.00775.x. Kidney Int. 2004. PMID: 15253707 Free article.
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M. Büscher AK, et al. Among authors: hildebrandt f. Clin J Am Soc Nephrol. 2010 Nov;5(11):2075-84. doi: 10.2215/CJN.01190210. Epub 2010 Aug 26. Clin J Am Soc Nephrol. 2010. PMID: 20798252 Free PMC article.
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: hildebrandt f. Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24. Kidney Int. 2011. PMID: 21866095 Free PMC article.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: hildebrandt f. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
Karyomegalic interstitial nephritis.
Zschiedrich S, Huber TB, Hildebrandt F, Mihatsch MJ, Wiech T. Zschiedrich S, et al. Among authors: hildebrandt f. Lancet. 2013 Dec 21;382(9910):2093. doi: 10.1016/S0140-6736(13)60224-X. Epub 2013 Jul 5. Lancet. 2013. PMID: 23831142 Free PMC article. No abstract available.
456 results