Lehrstuhl für Humangenetik

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 (2014) Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, et al. Journal article Adult hippocampal neurogenesis in Parkinson's disease: impact on neuronal survival and plasticity (2014) Regensburger M, Prots I, Winner B Journal article Matrilin-1 is essential for zebrafish development by facilitating collagen II secretion (2014) Neacsu CD, Ko YP, Tagariello A, Karlsen KR, Neiss WF, Paulsson M, Wagener R Journal article Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation (2014) Eberhardt M, Nakajima J, Klinger A, Neacsu C, Hühne K, o' Reilly A, Kist A, et al. Journal article A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype (2014) Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Ortiz C, Heuss D, Del Valle G, Rautenstrauß B Journal article Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin (2014) Ekici AB, Hackenbeck T, Moriniere V, Panness A, Büttner M, Uebe S, Janka RM, et al. Journal article Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014) Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al. Journal article Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients (2014) Rohde D, Schmitt H, Winterpacht A, Münster T Journal article A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 (2014) Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, et al. Journal article The Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons (2014) Purohit P, Perez-Branguli F, Prots I, Borger E, Gunn-Moore F, Welzel O, Loy K, et al. Journal article