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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft für Paediatrische Nephrologie (GPN) Study Group. Schoeb DS, et al. Among authors: heeringa sf. Nephrol Dial Transplant. 2010 Sep;25(9):2970-6. doi: 10.1093/ndt/gfq088. Epub 2010 Feb 18. Nephrol Dial Transplant. 2010. PMID: 20172850 Free PMC article.
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group. Chernin G, et al. Among authors: heeringa sf. Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1. Clin J Am Soc Nephrol. 2010. PMID: 20595692 Free PMC article.
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. Gbadegesin R, et al. Among authors: heeringa sf. Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065803
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. Heeringa SF, et al. PLoS One. 2009 Nov 10;4(11):e7771. doi: 10.1371/journal.pone.0007771. PLoS One. 2009. PMID: 19936226 Free PMC article.
168 results