Lehrstuhl für Humangenetik

Adresse:
Schwabachanlage 10
91054 Erlangen



Untergeordnete Organisationseinheiten

Professur für Humangenetik
Professur für Stammzell-Modelle seltener neuraler Erkrankungen


Publikationen (Download BibTeX)

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Hellwig, M., Lauffer, M.C., Bockmayr, M., Spohn, M., Merk, D.J., Harrison, L.,... Schueller, U. (2019). TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. Acta Neuropathologica, 137(4), 657-673. https://dx.doi.org/10.1007/s00401-019-01982-5
Zundler, S., Becker, E., Spocinska, M., Slawik, M., Parga-Vidal, L., Stark, R.,... Neurath, M. (2019). Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation. Nature Immunology, 20(3), 288-+. https://dx.doi.org/10.1038/s41590-018-0298-5
Hebebrand, M., Hüffmeier, U., Trollmann, R., Hehr, U., Uebe, S., Ekici, A.B.,... Popp, B. (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases, 14. https://dx.doi.org/10.1186/s13023-019-1020-x
Jitschin, R., Böttcher, M., Saul, D., Lukassen, S., Bruns, H., Loschinski, R.,... Mougiakakos, D. (2019). Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation. Leukemia. https://dx.doi.org/10.1038/s41375-018-0376-6
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B.,... Reis, A. (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. American Journal of Human Genetics, 102(3), 468-479. https://dx.doi.org/10.1016/j.ajhg.2018.01.014
Balta, E.-A., Wittmann, M.-T., Jung, M., Sock, E., Häberle, B., Heim, B.,... Lie, D.C. (2018). Phosphorylation Modulates the Subcellular Localization of SOX11. Frontiers in Molecular Neuroscience, 11. https://dx.doi.org/10.3389/fnmol.2018.00211
Mielenz, D., Reichel, M., Jia, T., Quinlan, E.B., Stöckl, T., Mettang, M.,... Müller, C.P. (2018). EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction. Molecular Psychiatry, 23(5), 1303-1319. https://dx.doi.org/10.1038/mp.2017.63
Kelemen, L.E., Earp, M., Fridley, B.L., Chenevix-Trench, G., Fasching, P.A., Beckmann, M.,... Berchuck, A. (2018). rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. International Journal of Molecular Sciences, 19(9). https://dx.doi.org/10.3390/ijms19092473
Berner, D., Pasutto, F., Hoja, U., Zenkel, M., Ozaki, M., Williams, S.,... Schlötzer-Schrehardt, U. (2018). Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1.
Johnston, J.J., Van Der Smagt, J.J., Rosenfeld, J.A., Pagnamenta, A.T., Alswaid, A., Baker, E.H.,... Biesecker, L.G. (2018). Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine. https://dx.doi.org/10.1038/gim.2017.249
Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.T.,... Zweier, C. (2018). Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. European Journal of Medical Genetics, 61(7), 363-368. https://dx.doi.org/10.1016/j.ejmg.2018.01.016
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C.T. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630-638. https://dx.doi.org/10.1038/gim.2017.159
Gregor, A., Sadleir, L.G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L.B.,... Zweier, C. (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2), 305-316. https://dx.doi.org/10.1016/j.ajhg.2018.07.003
Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A.B.,... Popp, B. (2018). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.60679
Leal, A., Bogantes-Ledezma, S., Ekici, A.B., Uebe, S., Thiel, C.T., Sticht, H.,... Reis, A. (2018). The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics, 19(4), 215-225. https://dx.doi.org/10.1007/s10048-018-0555-7
Kraus, C., Uebe, S., Thiel, C.T., Ekici, A.B., Reis, A., & Zweier, C. (2018). Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.40640
Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z.,... Reis, A. (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8(1). https://dx.doi.org/10.1038/s41598-018-35506-0
Pasutto, F., Ekici, A.B., Reis, A., Kremers, J., & Huchzermeyer, C. (2018). Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. Ophthalmic Genetics, 1-8. https://dx.doi.org/10.1080/13816810.2018.1520263
Agaimy, A., Amin, M.B., Gill, A., Popp, B., Reis, A., Berney, D.M.,... Hartmann, A. (2018). SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients. Human Pathology, 77, 139-146. https://dx.doi.org/10.1016/j.humpath.2018.04.004
Wunderle, M., Gaß, P., Häberle, L., Flesch, V.M., Rauh, C., Bani, M.,... Hein, A. (2018). BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients. Breast Cancer Research and Treatment, 171(1), 85-94. https://dx.doi.org/10.1007/s10549-018-4797-8

Zuletzt aktualisiert 2016-05-05 um 04:58