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Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
Ovunc B, Otto EA, Vega-Warner V, Saisawat P, Ashraf S, Ramaswami G, Fathy HM, Schoeb D, Chernin G, Lyons RH, Yilmaz E, Hildebrandt F. Ovunc B, et al. Among authors: schoeb d. J Am Soc Nephrol. 2011 Oct;22(10):1815-20. doi: 10.1681/ASN.2011040337. Epub 2011 Sep 8. J Am Soc Nephrol. 2011. PMID: 21903995 Free PMC article.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. Hildebrandt F, et al. Among authors: schoeb ds. PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23. PLoS Genet. 2009. PMID: 19165332 Free PMC article.
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. 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. 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.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F. Heeringa SF, et al. Among authors: schoeb ds. J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11. J Clin Invest. 2011. PMID: 21540551 Free PMC article.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F. Gee HY, et al. J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8. J Clin Invest. 2013. PMID: 23867502 Free PMC article.
[Processing of medical products in the urological practice].
Ebner W, Bauer M, Sigle A, Miernik A, Becker B, Lehrich K, Klein JT, Lusuardi L, Gross AJ, Herrmann TRW, Frede T, Siegsmund M, Netsch C, Gratzke C, Schoeb DS. Ebner W, et al. Among authors: schoeb ds. Urologie. 2023 Jan;62(1):81-90. doi: 10.1007/s00120-022-02004-1. Epub 2023 Jan 16. Urologie. 2023. PMID: 36645428 German.
47 results