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801 results

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Page 1
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K. Kerti A, et al. Among authors: schaefer f. Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14. Pediatr Nephrol. 2013. PMID: 23242530
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Weber S, et al. Among authors: schaefer f. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13. J Am Soc Nephrol. 2006. PMID: 16971658
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group. Tabatabaeifar M, et al. Among authors: schaefer f. Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14. Pediatr Nephrol. 2009. PMID: 19685083
Demographics of paediatric renal replacement therapy in Europe: 2007 annual report of the ESPN/ERA-EDTA registry.
van Stralen KJ, Tizard EJ, Verrina E, Schaefer F, Jager KJ; European Society for Paediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) registry study group. van Stralen KJ, et al. Among authors: schaefer f. Pediatr Nephrol. 2010 Jul;25(7):1379-82. doi: 10.1007/s00467-010-1472-7. Epub 2010 Feb 23. Pediatr Nephrol. 2010. PMID: 20177709 Free PMC article. No abstract available.
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium. Ozaltin F, et al. Among authors: schaefer f. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722858 Free PMC article.
Animal models of nephrotic syndrome.
Simic I, Tabatabaeifar M, Schaefer F. Simic I, et al. Among authors: schaefer f. Pediatr Nephrol. 2013 Nov;28(11):2079-88. doi: 10.1007/s00467-012-2376-5. Epub 2012 Dec 19. Pediatr Nephrol. 2013. PMID: 23250714 Review.
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium. Lipska BS, et al. Among authors: schaefer f. Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20. Kidney Int. 2013. PMID: 23515051 Free article.
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
Lipska BS, Balasz-Chmielewska I, Morzuch L, Wasielewski K, Vetter D, Borzecka H, Drozdz D, Firszt-Adamczyk A, Gacka E, Jarmolinski T, Ksiazek J, Kuzma-Mroczkowska E, Litwin M, Medynska A, Silska M, Szczepanska M, Tkaczyk M, Wasilewska A, Schaefer F, Zurowska A, Limon J. Lipska BS, et al. Among authors: schaefer f. J Appl Genet. 2013 Aug;54(3):327-33. doi: 10.1007/s13353-013-0147-z. Epub 2013 May 5. J Appl Genet. 2013. PMID: 23645318 Free PMC article.
801 results