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Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle A, Wudy SA, Saar K, Hagemann S, Friedel S, Scherag A, Berthold LD, Alzen G, Gortner L, Blum WF, Hinney A, Nürnberg P, Schäfer H, Hebebrand J. Dempfle A, et al. Among authors: nurnberg p. Hum Mol Genet. 2006 Sep 15;15(18):2772-83. doi: 10.1093/hmg/ddl218. Epub 2006 Aug 11. Hum Mol Genet. 2006. PMID: 16905557
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.
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Among authors: nurnberg p, nurnberg g. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376
SOX9 duplication linked to intersex in deer.
Kropatsch R, Dekomien G, Akkad DA, Gerding WM, Petrasch-Parwez E, Young ND, Altmüller J, Nürnberg P, Gasser RB, Epplen JT. Kropatsch R, et al. Among authors: nurnberg p. PLoS One. 2013 Sep 6;8(9):e73734. doi: 10.1371/journal.pone.0073734. eCollection 2013. PLoS One. 2013. PMID: 24040047 Free PMC article.
696 results