Lehrstuhl für Humangenetik

Schwabachanlage 10
91054 Erlangen

Untergeordnete Organisationseinheiten

Professur für Humangenetik
Professur für Stammzell-Modelle seltener neuraler Erkrankungen

Publikationen (Download BibTeX)

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Assmann, G., Bittenbring, J.T., Wagner, A.D., Schreiber, M., Christofyllakis, K., Hüffmeier, U.,... Neumann, F. (2019). IMPACT OF INTERLEUKIN 17 BLOCKING AGENT ON CLINICAL OUTCOME IN SAPHO PATIENTS. In ANNALS OF THE RHEUMATIC DISEASES (pp. 875-876). Madrid, ES: LONDON: BMJ PUBLISHING GROUP.
Popp, B., Agaimy, A., Kraus, C., Knaup, K.X., Ekici, A.B., Uebe, S.,... Zweier, C. (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer, 19(1). https://dx.doi.org/10.1186/s12885-019-5633-1
Poettler, M., Fliedner, A., Bergmann, J., Bui, L.K., Mühlberger, M., Braun, C.,... Lyer, S. (2019). Magnetic Tissue Engineering of the Vocal Fold Using Superparamagnetic Iron Oxide Nanoparticles. Tissue Engineering: Parts A, B, and C. https://dx.doi.org/10.1089/ten.tea.2019.0009
Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759. https://dx.doi.org/10.1038/s41431-018-0331-z
Coll-Tane, M., Krebbers, A., Castells-Nobau, A., Zweier, C., & Schenck, A. (2019). Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila. Disease Models & Mechanisms, 12(5). https://dx.doi.org/10.1242/dmm.039180
Löhr, S., Ekici, A.B., Uebe, S., Büttner, C., Köhm, M., Behrens, F.,... Hüffmeier, U. (2019). Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants. Rheumatology, 58(5), 915-917. https://dx.doi.org/10.1093/rheumatology/key448
Tiosano, D., Baris, H.N., Chen, A., Hitzert, M.M., Schüler, M., Gulluni, F.,... Buchner, D.A. (2019). Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genetics, 15(4), e1008088-. https://dx.doi.org/10.1371/journal.pgen.1008088
Siggs, O.M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J.E.H., Taranath, D.,... Craig, J.E. (2019). Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. JAMA Ophthalmology, 137(4), 348-355. https://dx.doi.org/10.1001/jamaophthalmol.2018.5646
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
Fazzini, F., Lamina, C., Fendt, L., Schultheiss, U.T., Kotsis, F., Hicks, A.A.,... Nadal, J. (2019). Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease. Kidney International. https://dx.doi.org/10.1016/j.kint.2019.04.021
Konrad, E., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G.,... Zweier, C. (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0585-z
Hansen, M., Peltier, J., Killy, B., Amin, B., Bodendorfer, B., HäRtlova, A.,... Lang, R. (2019). Macrophage phosphoproteome analysis reveals MINCLE-dependent and-independent mycobacterial cord factor signaling. Molecular & Cellular Proteomics, 18(4), 669-685. https://dx.doi.org/10.1074/mcp.RA118.000929
Iqbal, Z., Tawamie, H., Ba, W., Reis, A., Halak, B.A., Sticht, H.,... Abou Jamra, R. (2019). Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-018-0415-8
Gong, B., Zhang, H., Huang, L., Chen, Y., Shi, Y., Tam, P.O.S.,... Yang, Z. (2019). Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0507-0
Hauer, N., Popp, B., Taher, L., Vogl, C., Dhandapany, P.S., Büttner, C.,... Thiel, C. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European journal of human genetics. https://dx.doi.org/10.1038/s41431-019-0362-0
Fenckova, M., Blok, L.E., Asztalos, L., Goodman, D.P., Cizek, P., Singgih, E.L.,... Schenck, A. (2019). Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders. Biological Psychiatry. https://dx.doi.org/10.1016/j.biopsych.2019.04.029
Diets, I.J., Hoyer, J., Ekici, A.B., Popp, B., Hoogerbrugge, N., van Reijmersdal, S.V.,... Metzler, M. (2019). TRIM28 haploinsufficiency predisposes to Wilms tumor. International Journal of Cancer. https://dx.doi.org/10.1002/ijc.32167
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

Zuletzt aktualisiert 2019-24-04 um 10:29

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