Vera M. Kalscheuer
Department of Human Molecular Genetics
Max Planck Institute for Molecular Genetics
Berlin
Germany
Name/email consistency: high
- A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Kalscheuer, V.M., Musante, L., Fang, C., Hoffmann, K., Fuchs, C., Carta, E., Deas, E., Venkateswarlu, K., Menzel, C., Ullmann, R., Tommerup, N., Dalprà, L., Tzschach, A., Selicorni, A., Lüscher, B., Ropers, H.H., Harvey, K., Harvey, R.J. Hum. Mutat. (2009)
- Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. Kalscheuer, V.M., Feenstra, I., Van Ravenswaaij-Arts, C.M., Smeets, D.F., Menzel, C., Ullmann, R., Musante, L., Ropers, H.H. Am. J. Med. Genet. A (2008)
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Kalscheuer, V.M., FitzPatrick, D., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L.M., Tzschach, A., Shoichet, S.A., Menzel, C., Erdogan, F., Arkesteijn, G., Ropers, H.H., Ullmann, R. Hum. Genet. (2007)
- Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kübart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H., Harbord, M., Haan, E., Sutherland, G.R., Ropers, H.H., Gécz, J. Am. J. Hum. Genet. (2003)
- Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S., Ropers, H.H. Nat. Genet. (2003)