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Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group. Ruf RG, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72. J Am Soc Nephrol. 2004. PMID: 14978175
NPHS2 mutation associated with recurrence of proteinuria after transplantation.
Billing H, Müller D, Ruf R, Lichtenberger A, Hildebrandt F, August C, Querfeld U, Haffner D. Billing H, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2004 May;19(5):561-4. doi: 10.1007/s00467-003-1408-6. Epub 2004 Mar 10. Pediatr Nephrol. 2004. PMID: 15015071 Free 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.
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Wolf MT, Zalewski I, Martin FC, Ruf R, Müller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F. Wolf MT, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2005 May;20(5):909-14. doi: 10.1093/ndt/gfh754. Epub 2005 Mar 1. Nephrol Dial Transplant. 2005. PMID: 15741201
476 results