All Publications

Zahn, S.; Ehrbrecht, A.; Bosse, K.; Kalscheuer, V. M.; Propping, P.; Schwanitz, G.; Albrecht, B.; Engels, H.: Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1. American Journal of Medical Genetics: Part A 139 (1), pp. 19 - 24 (2005)

Shoichet, S. A.; Kunde, S.-A.; Viertel, P.; Schell-Apacik, C.; von Voss, H.; Tommerup, N.; Ropers, H.-H.; Kalscheuer, V. M.: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics 117 (6), pp. 536 - 544 (2005)

Borg, I.; Freude, K.; Kuebart, S.; Hoffmann, K.; Menzel, C.; Laccone, F.; Firth, H.; Ferguson-Smith, M. A.; Tommerup, N.; Ropers, H.-H. et al.; Sargan, D.; Kalscheuer, V. M.: Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. European Journal of Human Genetics 13 (8), pp. 921 - 927 (2005)

Backsch, C.; Rudolph, B.; Kuehne-Hei, R.; Kalscheuer, V.; Bartsch, O.; Jansen, L.; Beer, K.; Meyer, B.; Schneider, A.; Duerst, M.: A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis. Genes Chromosomes & Cancer 43 (12), pp. 260 - 267 (2005)

Foerster, J.; Nolte, I.; Junge, J.; Bruinenberg, M.; Schweiger, S.; Spaar, K.; van der Steege, G.; Ehlert, C.; Mulder, M.; Kalscheuer, V.: Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 124 (1), pp. 99 - 102 (2005)

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)