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622 results

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Page 1
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. Among authors: hoppe b. 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.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. Sayer JA, et al. Among authors: hoppe b. Nat Genet. 2006 Jun;38(6):674-81. doi: 10.1038/ng1786. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682973
The primary hyperoxalurias.
Hoppe B, Beck BB, Milliner DS. Hoppe B, et al. Kidney Int. 2009 Jun;75(12):1264-1271. doi: 10.1038/ki.2009.32. Epub 2009 Feb 18. Kidney Int. 2009. PMID: 19225556 Free PMC article. Review.
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: hoppe b. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.
Nephrocalcinosis and urolithiasis in children.
Habbig S, Beck BB, Hoppe B. Habbig S, et al. Among authors: hoppe b. Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28. Kidney Int. 2011. PMID: 21956187 Free article.
Pharmacokinetics and immunodynamics of basiliximab in pediatric renal transplant recipients on mycophenolate mofetil comedication.
Höcker B, Kovarik JM, Daniel V, Opelz G, Fehrenbach H, Holder M, Hoppe B, Hoyer P, Jungraithmayr TC, Köpf-Shakib S, Laube GF, Müller-Wiefel DE, Offner G, Plank C, Schröder M, Weber LT, Zimmerhackl LB, Tönshoff B. Höcker B, et al. Among authors: hoppe b. Transplantation. 2008 Nov 15;86(9):1234-40. doi: 10.1097/TP.0b013e318188ae18. Transplantation. 2008. PMID: 19005405 Clinical Trial.
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Hoyer P, Staude H, Konrad M, John U, Gellermann J, Hoppe B, Galiano M, Gessner M, Pohl M, Bergmann C, Friede T, Gross O; GPN Study Group and EARLY PRO-TECT Alport Investigators. Boeckhaus J, et al. Among authors: hoppe b. Clin Genet. 2021 Jan;99(1):143-156. doi: 10.1111/cge.13861. Epub 2020 Oct 25. Clin Genet. 2021. PMID: 33040356
622 results