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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.
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group. Mucha B, et al. Among authors: hildebrandt f. Pediatr Res. 2006 Feb;59(2):325-31. doi: 10.1203/01.pdr.0000196717.94518.f0. Pediatr Res. 2006. PMID: 16439601
Eye involvement in children with primary focal segmental glomerulosclerosis.
Ozaltin F, Heeringa S, Poyraz CE, Bilginer Y, Kadayifcilar S, Besbas N, Topaloglu R, Ozen S, Hildebrandt F, Bakkaloglu A. Ozaltin F, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2008 Mar;23(3):421-7. doi: 10.1007/s00467-007-0695-8. Epub 2007 Dec 5. Pediatr Nephrol. 2008. PMID: 18058136
454 results