Lehrstuhl für Humangenetik

Address:
Schwabachanlage 10
91054 Erlangen



Subordinate Organisational Units

Professur für Humangenetik
Professur für Stammzell-Modelle seltener neuraler Erkrankungen


Publications (Download BibTeX)

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Muschler, M.A.N., Lenz, B., Hillemacher, T., Kraus, C., Kornhuber, J., Frieling, H., & Bleich, S. (2014). CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? Psychopharmacology, 231(10), 2059-66. https://dx.doi.org/10.1007/s00213-013-3349-5
Leal, A., Berghoff, C., Berghoff, M., Rojas-Araya, M., Ortiz, C., Heuss, D.,... Rautenstrauß, B. (2014). A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype. Revista De Biologia Tropical, 62(4), 1285-93.
Asadollahi, R., Oneda, B., Joset, P., Azzarello-Burri, S., Bartholdi, D., Steindl, K.,... Rauch, A. (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10), 677-88. https://dx.doi.org/10.1136/jmedgenet-2014-102588
Raaz-Schrauder, D., Ekici, A.B., Klinghammer, L., Stumpf, C., Achenbach, S., Herrmann, M.,... Garlichs, C. (2014). The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype. Thrombosis Research, 133(3), 426-32. https://dx.doi.org/10.1016/j.thromres.2013.12.030
Reuter, M., Sass, J.O., Leis, T., Koehler, J., Mayr, J.A., Feichtinger, R.G.,... Reis, A. (2014). HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. American Journal of Medical Genetics Part A, 164(12), 3162-9. https://dx.doi.org/10.1002/ajmg.a.36766
Vulto-Van Silfhout, A.T., Rajamanickam, S., Jensik, P.J., Vergult, S., De Rocker, N., Newhall, K.J.,... De Vries, B.B.A. (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5), 649-61. https://dx.doi.org/10.1016/j.ajhg.2014.03.013
Ekici, A.B., Hackenbeck, T., Moriniere, V., Panness, A., Büttner, M., Uebe, S.,... Wiesener, M.S. (2014). Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney International, 86(3), 589-99. https://dx.doi.org/10.1038/ki.2014.72
Hofmann, K., Zweier, M., Sticht, H., Zweier, C., Wittmann, W., Hoyer, J.,... Rauch, A. (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature. American Journal of Medical Genetics Part A, 161A(11), 2880-9. https://dx.doi.org/10.1002/ajmg.a.36250
Gregor, A., Oti, M., Kouwenhoven, E.N., Hoyer, J., Sticht, H., Ekici, A.B.,... Zweier, C. (2013). De novo mutations in the genome organizer CTCF cause intellectual disability. American Journal of Human Genetics, 93(1), 124-31. https://dx.doi.org/10.1016/j.ajhg.2013.05.007
Koerber, A., Moessner, R., Renner, R., Sticht, H., Wilsmann-Theis, D., Schulz, P.,... Hüffmeier, U. (2013). Mutations in IL36RN in patients with generalized pustular psoriasis. Journal of Investigative Dermatology, 133(11), 2634-7. https://dx.doi.org/10.1038/jid.2013.214
Van Koolwijk, L.M.E., Ramdas, W.D., Ikram, M.K., Jansonius, N.M., Pasutto, F., Hysi, P.G.,... Van Duijn, C.M. (2012). Common genetic determinants of intraocular pressure and primary open-angle glaucoma. Plos Genetics, 8(5), e1002611. https://dx.doi.org/10.1371/journal.pgen.1002611
Pasutto, F., Keller, K.E., Weisschuh, N., Sticht, H., Samples, J.R., Yang, Y.-F.,... Wirtz, M.K. (2012). Variants in ASB10 are associated with open-angle glaucoma. Human Molecular Genetics, 21(6), 1336-49. https://dx.doi.org/10.1093/hmg/ddr572
Fernández Martinez, L., Letteboer, S., Mardin, C.Y., Weisschuh, N., Gramer, E., Weber, B.H.F.,... Pasutto, F. (2011). Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European journal of human genetics, 19(4), 445-51. https://dx.doi.org/10.1038/ejhg.2010.217
Krumbiegel, M., Pasutto, F., Schlötzer-Schrehardt, U., Uebe, S., Zenkel, M., Mardin, C.Y.,... Reis, A. (2011). Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. European journal of human genetics, 19(2), 186-93. https://dx.doi.org/10.1038/ejhg.2010.144
Haberlova, J., Mazanec, R., Ridzon, P., Barankova, L., Nuernberg, G., Nuernberg, P.,... Rautenstrauss, B. (2011). Phenotypic variability in a large Czech family with a Dynamin 2-associated Charcot-Marie-Tooth neuropathy. Journal of Neurogenetics, 25(4), 182-8. https://dx.doi.org/10.3109/01677063.2011.627484
Zenkel, M., Krysta, A., Pasutto, F., Jünemann, A., Kruse, F., & Schlötzer-Schrehardt, U. (2011). Regulation of Lysyl Oxidase-like 1 (LOXL1) and Elastin-Related Genes by Pathogenic Factors Associated with Pseudoexfoliation Syndrome. Investigative Ophthalmology & Visual Science, 52(11), 8488-95. https://dx.doi.org/10.1167/iovs.11-8361
Ramdas, W.D., Van Koolwijk, L.M.E., Lemij, H.G., Pasutto, F., Cree, A.J., Thorleifsson, G.,... Van Duijn, C.M. (2011). Common genetic variants associated with open-angle glaucoma. Human Molecular Genetics, 20(12), 2464-2471. https://dx.doi.org/10.1093/hmg/ddr120

Last updated on 2019-24-04 at 10:29