Institute of Human Genetics

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 CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? (2014) Muschler MAN, Lenz B, Hillemacher T, Kraus C, Kornhuber J, Frieling H, Bleich S 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 Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study (2014) Johnson N, Dudbridge F, Orr N, Gibson L, Jones ME, Schoemaker MJ, Folkerd EJ, et al. Journal article Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients (2014) Hein A, Bayer CM, Schrauder MG, Haeberle L, Heusinger K, Strick R, Ruebner M, et al. Journal article MicroRNA Related Polymorphisms and Breast Cancer Risk (2014) Khan S, Greco D, Michailidou K, Milne RL, Muranen TA, Heikkinen T, Aaltonen K, et al. Journal article FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium (2014) Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, et al. Journal article Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (2014) Ghoussaini M, Edwards SL, Michailidou K, Nord S, Lari RCS, Desai K, Kar S, et al. Journal article