Prof. Dr. Christiane Zweier



Organisation


Medizinische Fakultät


Publications (Download BibTeX)

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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
Zollino, M., Zweier, C., Van Balkom, I.D., Sweetser, D.A., Alaimo, J., Bijlsma, E.K.,... Hennekam, R.C. (2019). Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clinical Genetics, 95(4), 462-478. https://dx.doi.org/10.1111/cge.13506
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
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
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
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
Jung, M., Häberle, B., Tschaikowsky, T., Wittmann, M.-T., Balta, E.-A., Stadler, V.-C.,... Lie, D.C. (2018). Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons. Molecular Autism , 9. https://dx.doi.org/10.1186/s13229-018-0200-1
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

Last updated on 2018-09-01 at 01:00