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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Among authors: tonshoff b. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Serum insulin-like growth factor binding protein (IGFBP)-4 and IGFBP-5 in children with chronic renal failure: relationship to growth and glomerular filtration rate. The European Study Group for Nutritional Treatment of Chronic Renal Failure in Childhood. German Study Group for Growth Hormone Treatment in Chronic Renal Failure.
Ulinski T, Mohan S, Kiepe D, Blum WF, Wingen AM, Mehls O, Tönshoff B. Ulinski T, et al. Among authors: tonshoff b. Pediatr Nephrol. 2000 Jul;14(7):589-97. doi: 10.1007/s004670000361. Pediatr Nephrol. 2000. PMID: 10912524
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W; Arbeitsgemeinschaft für Pädiatrische Nephrologie. Plank C, et al. Pediatr Nephrol. 2008 Sep;23(9):1483-93. doi: 10.1007/s00467-008-0794-1. Epub 2008 May 15. Pediatr Nephrol. 2008. PMID: 18481113 Free PMC article. Clinical Trial.
Prevalence of arterial hypertension and its morbidity in children and adolescents 3 years after renal transplantation with mycophenolate mofetil-based immunosuppression.
Jungraithmayr T, Staskewitz A, Kirste G, Böswald M, Bulla M, Burghard R, Dippell J, Greiner C, Klare B, Klaus G, Leichter H, Misselwitz J, Patzer L, Querfeld U, Rascher W, Tönshoff B, Wiesel M, Brandis M, Zimmerhackl LB; MMF Study Group. Jungraithmayr T, et al. Among authors: tonshoff b. Transplant Proc. 2002 Sep;34(6):2215. doi: 10.1016/s0041-1345(02)03207-4. Transplant Proc. 2002. PMID: 12270369 No abstract available.
316 results