Dr. rer. nat. Steffen Uebe



Organisationseinheit


Humangenetisches Institut


Publikationen (Download BibTeX)

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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
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
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
Hannemann, N., Cao, S., Schnelzer, A., Jordan, J., Eberhardt, M., Schleicher, U.,... Bozec, A. (2019). INHIBITION OF ARGINASE-1 EXPRESSION BY THE TRANSCRIPTION FACTOR FRA-1 IN MACROPHAGES EXACERBATES RHEUMATOID ARTHRITIS INFLAMMATION. In ANNALS OF THE RHEUMATIC DISEASES (pp. A27-A27). Lyon, FR: LONDON: BMJ PUBLISHING GROUP.
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
Wohlfahrt, T., Rauber, S., Uebe, S., Luber, M., Soare, A., Ekici, A.B.,... Ramming, A. (2019). PU.1 controls fibroblast polarization and tissue fibrosis. Nature. https://dx.doi.org/10.1038/s41586-019-0896-x
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
Hannemann, N., Cao, S., Eriksson, D., Schnelzer, A., Jordan, J., Eberhardt, M.,... Bozec, A. (2019). Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis. Journal of Clinical Investigation, 129(7), 2669-2684. https://dx.doi.org/10.1172/JCI96832
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
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

Zuletzt aktualisiert 2016-05-05 um 05:18