Publikationen von Vera M. Kalscheuer

Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), S. 185 - 195 (2010)

Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)

Córdova-Fletes, C.; Rademacher, N.; Müller, I.; Mundo-Ayala, J. N.; Morales-Jeanhs, E. A.; García-Ortiz, J. E.; León-Gil, A.; Rivera, H.; Domínguez, M. G.; Kalscheuer, V. M.: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics 77 (1), S. 92 - 96 (2010)

Musante, L.; Kunde, S.-A.; Sulistio, T. O.; Frints, S. G.M.; Schwartz, C. E.; Martínez, F.; Romano, C.; Ropers, H.-H.; Kalscheuer, V. M.; Fischer, U. et al.; Grimme, A.: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 31 (1), S. 90 - 98 (2010)

Tzschach, A.; Ramel, C.; Kron, A.; Seipel, B.; Wüster, C.; Cordes, U.; Liehr, T.; Hoeltzenbein, M.; Menzel, C.; Ropers, H.-H. et al.; Ullmann, R.; Kalscheuer, V.; Decker, J.; Steinberger, D.: Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology 32 (3), S. 226 - 230 (2009)

Neumann, T. E.; Allanson, J.; Kavamura, I.; Kerr, B.; Neri, G.; Noonan, J.; Cordeddu, V.; Gibson, K.; Tzschach, A.; Krüger, G. et al.; Hoeltzenbein, M.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Sasiadek, M. M.; Musante, L.; Laurie, R.; Peters, H.; Tartaglia, M.; Zenker, M.; Kalscheuer, V. M.: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 17 (4), S. 420 - 425 (2009)

Kalscheuer, V. M.; Musante, L.; Fang, C.; Hoffmann, K.; Fuchs, C.; Carta, E.; Deas, E.; Venkateswarlu, K.; Menzel, C.; Ullmann, R. et al.; Tommerup, N.; Dalprà, L.; Tzschach, A.; Selicorni, A.; Lüscher, B.; Ropers, H.-H.; Harvey, K.; Harvey, R. J.: A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 30 (1), S. 61 - 68 (2009)

Kalscheuer, V. M.; Feenstra, I.; Van Ravenswaaij-Arts, C. M. A.; Smeets, D. F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; r Ropers, H.-H.: Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 146 A (16), S. 2053 - 2059 (2008)

Mller, R. S.; Kübart, S.; Hoeltzenbein, M.; Heye, B.; Vogel, I.; Hansen, C. P.; Menzel, C.; Ullmann, R.; Tommerup, N.; Ropers, H.-H. et al.; Tümer, Z.; Kalscheuer, V. M.: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics 82 (5), S. 1165 - 1170 (2008)

Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), S. 1143 - 1149 (2008)

Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), S. 37 - 40 (2008)

Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), S. 337 - 342 (2008)

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)

Tzschach, A.; Menzel, C.; Erdogan, F.; Schubert, M.; Hoeltzenbein, M.; Barbi, G.; Petzenhauser, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics 143 A (4), S. 333 - 337 (2007)

de Brouwer, A. P.M.; Yntema, H. G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A. R.; de Vries, B. B. A.; van Bokhoven, H.; van Esch, H.; Frints, S. G. M.; Froyen, G. et al.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; des Portes, V.; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A. W.; Tzschach, A.; Jensen, L. R.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.; Hamel, B. C.J.: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 28 (2), S. 207 - 208 (2007)

Kalscheuer, V. M.; FitzPatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L. M.; Tzschach, A.; Shoichet, S. A.; Menzel, C.; Erdogan, F. et al.; Arkesteijn, G.; Ropers, H.-H.; Ullmann, R.: Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 121 (3-4), S. 501 - 509 (2007)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; 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 132A (1), S. 1 - 7 (2006)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; 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 132A (1), S. 1 - 7 (2006)

Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), S. 247 - 253 (2006)