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Page 1
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: toenshoff b. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T, Decker C, Hiersche M, Hamann RC, Decker E, Neuber S, Frank V, Bolz HJ, Fehrenbach H, Pape L, Toenshoff B, Mache C, Latta K, Bergmann C. Eisenberger T, et al. Among authors: toenshoff b. PLoS One. 2015 Feb 3;10(2):e0116680. doi: 10.1371/journal.pone.0116680. eCollection 2015. PLoS One. 2015. PMID: 25646624 Free PMC article.
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B. Beck BB, et al. Among authors: toenshoff b. Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781098 Free PMC article.
Dent Disease with mutations in OCRL1.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: toenshoff b. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.
Efficacy and safety of basiliximab in pediatric renal transplant patients receiving cyclosporine, mycophenolate mofetil, and steroids.
Offner G, Toenshoff B, Höcker B, Krauss M, Bulla M, Cochat P, Fehrenbach H, Fischer W, Foulard M, Hoppe B, Hoyer PF, Jungraithmayr TC, Klaus G, Latta K, Leichter H, Mihatsch MJ, Misselwitz J, Montoya C, Müller-Wiefel DE, Neuhaus TJ, Pape L, Querfeld U, Plank C, Schwarke D, Wygoda S, Zimmerhackl LB. Offner G, et al. Among authors: toenshoff b. Transplantation. 2008 Nov 15;86(9):1241-8. doi: 10.1097/TP.0b013e318188af15. Transplantation. 2008. PMID: 19005406 Clinical Trial.
Initial treatment of steroid-sensitive idiopathic nephrotic syndrome in children with mycophenolate mofetil versus prednisone: protocol for a randomised, controlled, multicentre trial (INTENT study).
Ehren R, Benz MR, Doetsch J, Fichtner A, Gellermann J, Haffner D, Höcker B, Hoyer PF, Kästner B, Kemper MJ, Konrad M, Luntz S, Querfeld U, Sander A, Toenshoff B, Weber LT; Gesellschaft für Pädiatrische Nephrologie (GPN). Ehren R, et al. Among authors: toenshoff b. BMJ Open. 2018 Oct 10;8(10):e024882. doi: 10.1136/bmjopen-2018-024882. BMJ Open. 2018. PMID: 30309995 Free PMC article.
CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation.
Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Fuchs A, Hoyer P, Koepf S, Kraemer U, Laube GF, Müller-Wiefel DE, Netz H, Pohl M, Toenshoff B, Wagner HJ, Wallot M, Welte K, Melter M, Offner G, Klein C. Maecker B, et al. Among authors: toenshoff b. J Clin Oncol. 2007 Nov 1;25(31):4902-8. doi: 10.1200/JCO.2006.10.2392. J Clin Oncol. 2007. PMID: 17971586
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.
Jungraithmayr TC, Hofer K, Cochat P, Chernin G, Cortina G, Fargue S, Grimm P, Knueppel T, Kowarsch A, Neuhaus T, Pagel P, Pfeiffer KP, Schäfer F, Schönermarck U, Seeman T, Toenshoff B, Weber S, Winn MP, Zschocke J, Zimmerhackl LB. Jungraithmayr TC, et al. Among authors: toenshoff b. J Am Soc Nephrol. 2011 Mar;22(3):579-85. doi: 10.1681/ASN.2010010029. Epub 2011 Feb 25. J Am Soc Nephrol. 2011. PMID: 21355056 Free PMC article.
Therapeutic drug monitoring of mycophenolate mofetil in transplantation.
van Gelder T, Le Meur Y, Shaw LM, Oellerich M, DeNofrio D, Holt C, Holt DW, Kaplan B, Kuypers D, Meiser B, Toenshoff B, Mamelok RD. van Gelder T, et al. Among authors: toenshoff b. Ther Drug Monit. 2006 Apr;28(2):145-54. doi: 10.1097/01.ftd.0000199358.80013.bd. Ther Drug Monit. 2006. PMID: 16628123 Review.
The gut microbiome in solid organ transplantation.
Baghai Arassi M, Zeller G, Karcher N, Zimmermann M, Toenshoff B. Baghai Arassi M, et al. Among authors: toenshoff b. Pediatr Transplant. 2020 Nov;24(7):e13866. doi: 10.1111/petr.13866. Epub 2020 Sep 30. Pediatr Transplant. 2020. PMID: 32997434 Review.
15 results