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Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Schanze D, et al. Among authors: zenker m. Am J Med Genet A. 2013 Dec;161A(12):3012-7. doi: 10.1002/ajmg.a.36119. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24115501
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: zenker m. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.
Richter A, Guitart-Masip M, Barman A, Libeau C, Behnisch G, Czerney S, Schanze D, Assmann A, Klein M, Düzel E, Zenker M, Seidenbecher CI, Schott BH. Richter A, et al. Among authors: zenker m. Front Syst Neurosci. 2014 Aug 6;8:140. doi: 10.3389/fnsys.2014.00140. eCollection 2014. Front Syst Neurosci. 2014. PMID: 25147510 Free PMC article.
Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.
Richter A, Guitart-Masip M, Barman A, Libeau C, Behnisch G, Czerney S, Schanze D, Assmann A, Klein M, Düzel E, Zenker M, Seidenbecher C, Schott BH. Richter A, et al. Among authors: zenker m. Front Syst Neurosci. 2015 Mar 11;9:36. doi: 10.3389/fnsys.2015.00036. eCollection 2015. Front Syst Neurosci. 2015. PMID: 25814940 Free PMC article.
399 results