Lehrstuhl für Humangenetik

Common germline polymorphisms associated with breast cancer-specific survival (2015) Pirie A, Guo Q, Kraft P, Canisius S, Eccles DM, Rahman N, Nevanlinna H, et al. Journal article Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma (2015) Pasutto F, Mauri L, Popp B, Sticht H, Ekici AB, Piozzi E, Bonfante A, et al. Journal article Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci (2015) Tsoi LC, Spain SL, Ellinghaus E, Stuart PE, Capon F, Knight J, Tejasvi T, et al. Journal article α-Synuclein impairs oligodendrocyte progenitor maturation in multiple system atrophy. (2014) Winner B, May VEL, Ettle B, Pöhler AM, Nuber S, Ubhi K, Rockenstein E, et al. Journal article Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy (2014) Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Sticht H, et al. Journal article A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014) Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al. Journal article Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease (2014) Winner B, Marchetto MC, Winkler J, Gage FH Journal article Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons (2014) Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, et al. Journal article Accumulation of oligomer-prone ?-synuclein exacerbates synaptic and neuronal degeneration in vivo (2014) Rockenstein E, Nuber S, Overk CR, Ubhi K, Mante M, Patrick C, Adame A, et al. Journal article Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (2014) Vulto-Van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, De Rocker N, Newhall KJ, Raghavan R, et al. Journal article