Lehrstuhl für Humangenetik

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants (2017) Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, et al. Journal article Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017) Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al. Journal article Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients (2017) Oppelt P, Mueller A, Stephan L, Dittrich R, Lermann J, Büttner C, Ekici AB, et al. Journal article GSK3ss-Dependent Dysregulation of Neurodevelopment in SPG11-Patient Induced Pluripotent Stem Cell Model (2016) Mishra HK, Prots I, Havlicek S, Kohl Z, Pérez-Brangulí F, Börstler T, Anneser L, et al. Journal article PHENOTYPE OF VULNERABLE ATHEROSCLEROTIC PLAQUES SHOWS STRONG ASSOCIATION WITH SINGLE NUCLEOTIDE POLYMORPHISM ALLELES OF COMMON RISK VARIANTS FOR CORONARY ARTERY DISEASE (2016) Furtmair R, Kühn C, Koenig C, Ekici AB, Klinghammer L, Achenbach S, Reis A, et al. Conference contribution Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma (2016) Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, et al. Journal article ?-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy (2016) Ettle B, Kerman BE, Valera E, Gillmann C, Schlachetzki J, Reiprich S, Büttner C, et al. Journal article Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis (2016) Müller C, Kalinichenko L, Tiesel J, Witt M, Stöckl T, Sprenger E, Fuchser J, et al. Journal article Distinct Effects of Chronic Dopaminergic Stimulation on Hippocampal Neurogenesis and Striatal Doublecortin Expression in Adult Mice (2016) Salvi R, Steigleder T, Schlachetzki J, Waldmann E, Schwab S, Winner B, Winkler J, Kohl Z Journal article