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689 results

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Page 1
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
Ellinghaus E, Stanulla M, Richter G, Ellinghaus D, te Kronnie G, Cario G, Cazzaniga G, Horstmann M, Panzer Grümayer R, Cavé H, Trka J, Cinek O, Teigler-Schlegel A, ElSharawy A, Häsler R, Nebel A, Meissner B, Bartram T, Lescai F, Franceschi C, Giordan M, Nürnberg P, Heinzow B, Zimmermann M, Schreiber S, Schrappe M, Franke A. Ellinghaus E, et al. Among authors: nurnberg p. Leukemia. 2012 May;26(5):902-9. doi: 10.1038/leu.2011.302. Epub 2011 Nov 11. Leukemia. 2012. PMID: 22076464 Free PMC article.
Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Zheng W, Rosenstiel P, Huse K, Sina C, Valentonyte R, Mah N, Zeitlmann L, Grosse J, Ruf N, Nürnberg P, Costello CM, Onnie C, Mathew C, Platzer M, Schreiber S, Hampe J. Zheng W, et al. Among authors: nurnberg p. Genes Immun. 2006 Jan;7(1):11-8. doi: 10.1038/sj.gene.6364263. Genes Immun. 2006. PMID: 16222343
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Among authors: nurnberg p. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
POPSIM: a general population simulation program.
Hampe J, Wienker T, Schreiber S, Nürnberg P. Hampe J, et al. Among authors: nurnberg p. Bioinformatics. 1998 Jun;14(5):458-64. doi: 10.1093/bioinformatics/14.5.458. Bioinformatics. 1998. PMID: 9682059
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
Hampe J, Schreiber S, Shaw SH, Lau KF, Bridger S, Macpherson AJ, Cardon LR, Sakul H, Harris TJ, Buckler A, Hall J, Stokkers P, van Deventer SJ, Nürnberg P, Mirza MM, Lee JC, Lennard-Jones JE, Mathew CG, Curran ME. Hampe J, et al. Among authors: nurnberg p. Am J Hum Genet. 1999 Mar;64(3):808-16. doi: 10.1086/302294. Am J Hum Genet. 1999. PMID: 10053016 Free PMC article.
Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma.
Nieuwenhuis MA, Siedlinski M, van den Berge M, Granell R, Li X, Niens M, van der Vlies P, Altmüller J, Nürnberg P, Kerkhof M, van Schayck OC, Riemersma RA, van der Molen T, de Monchy JG, Bossé Y, Sandford A, Bruijnzeel-Koomen CA, Gerth van Wijk R, Ten Hacken NH, Timens W, Boezen HM, Henderson J, Kabesch M, Vonk JM, Postma DS, Koppelman GH. Nieuwenhuis MA, et al. Among authors: nurnberg p. Allergy. 2016 Dec;71(12):1712-1720. doi: 10.1111/all.12990. Epub 2016 Aug 22. Allergy. 2016. PMID: 27439200 Free PMC article.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. de Kovel CG, et al. Among authors: nurnberg p. Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20. Brain. 2010. PMID: 19843651 Free PMC article.
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nürnberg P, Schunkert H, Katus HA, Rottbauer W. Hassel D, et al. Among authors: nurnberg p. Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1. Nat Med. 2009. PMID: 19881492
689 results