Prof. Dr. Christiane Zweier



Organisationseinheit


Medizinische Fakultät


Publikationen (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
Cameron, J.M., Maljevic, S., Nair, U., Aung, Y.H., Cogne, B., Bezieau, S.,... Berkovic, S.F. (2019). Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. Annals of Clinical and Translational Neurology. https://dx.doi.org/10.1002/acn3.50822
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

Zuletzt aktualisiert 2018-09-01 um 01:00