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Page 1
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F. Hinkes B, et al. Among authors: griebel m. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. Hasselbacher K, et al. Among authors: griebel m. Kidney Int. 2006 Sep;70(6):1008-12. doi: 10.1038/sj.ki.5001679. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912710 Free article.
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: griebel m. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free article.
Five-year outcome in pediatric patients with mycophenolate mofetil-based renal transplantation.
Jungraithmayr TC, Wiesmayr S, Staskewitz A, Kirste G, Bulla M, Fehrenbach H, Dippell J, Greiner C, Griebel M, Helmchen U, Klaus G, Leichter HE, Mihatsch MJ, Michalk DV, Misselwitz J, Plank C, Tönshoff B, Weber LT, Zimmerhackl LB; German Pediatric Renal Transplantation Study Group. Jungraithmayr TC, et al. Among authors: griebel m. Transplantation. 2007 Apr 15;83(7):900-5. doi: 10.1097/01.tp.0000258587.70166.87. Transplantation. 2007. PMID: 17460560 Clinical Trial.
Percutaneous endoscopic gastrostomy in children on peritoneal dialysis.
von Schnakenburg C, Feneberg R, Plank C, Zimmering M, Arbeiter K, Bald M, Fehrenbach H, Griebel M, Licht C, Konrad M, Timmermann K, Kemper MJ. von Schnakenburg C, et al. Among authors: griebel m. Perit Dial Int. 2006 Jan-Feb;26(1):69-77. Perit Dial Int. 2006. PMID: 16538878
Four-year data after pediatric renal transplantation: a randomized trial of tacrolimus vs. cyclosporin microemulsion.
Filler G, Webb NJ, Milford DV, Watson AR, Gellermann J, Tyden G, Grenda R, Vondrak K, Hughes D, Offner G, Griebel M, Brekke IB, McGraw M, Balzar E, Friman S, Trompeter R. Filler G, et al. Among authors: griebel m. Pediatr Transplant. 2005 Aug;9(4):498-503. doi: 10.1111/j.1399-3046.2005.00334.x. Pediatr Transplant. 2005. PMID: 16048603 Clinical Trial.
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. Prust M, et al. Among authors: griebel m. Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14. Neurology. 2011. PMID: 21917775 Free PMC article.
78 results