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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: karle sm. Kidney Int. 2004 Aug;66(2):564-70. doi: 10.1111/j.1523-1755.2004.00775.x. Kidney Int. 2004. PMID: 15253707 Free article.
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: karle sm. 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
Telomeric refinement of the MCKD1 locus on chromosome 1q21.
Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F. Wolf MT, et al. Among authors: karle sm. Kidney Int. 2004 Aug;66(2):580-5. doi: 10.1111/j.1523-1755.2004.00799.x. Kidney Int. 2004. PMID: 15253709 Free article.
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M. Utsch B, et al. Am J Kidney Dis. 2006 Dec;48(6):942.e1-14. doi: 10.1053/j.ajkd.2006.08.018. Am J Kidney Dis. 2006. PMID: 17162149
13 results