Lehrstuhl für Humangenetik

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations (2014) Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange DK, Mortenson M, et al. Journal article The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype (2014) Raaz-Schrauder D, Ekici AB, Klinghammer L, Stumpf C, Achenbach S, Herrmann M, Reis A, Garlichs C Journal article α-Synuclein oligomers impair neuronal microtubule-kinesin interplay. (2013) Winner B, Prots I, Brey S Journal article De novo mutations in the genome organizer CTCF cause intellectual disability (2013) Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al. Journal article Mutations in IL36RN in patients with generalized pustular psoriasis (2013) Koerber A, Moessner R, Renner R, Sticht H, Wilsmann-Theis D, Schulz P, Sticherling M, et al. Journal article Biallelic SEMA3A defects cause a novel type of syndromic short stature (2013) Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, et al. Journal article Role of α-synuclein in adult neurogenesis and neuronal maturation in the dentate gyrus. (2012) Winner B, Regensburger M, Prots I, Winkler J Journal article α-Synuclein induces alterations in adult neurogenesis in Parkinson disease models via p53-mediated repression of Notch1. (2012) Desplats P, Spencer B, Crews L, Pathel P, Morvinski-Friedmann D, Kosberg K, Roberts S, et al. Journal article LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors. (2012) Winner B, Prots I, Hinkle KM, Yue M, Bahareh B, Dächsel JC, Lincoln SJ, et al. Journal article, Review article