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Zeitschriftenartikel (119)

61.
Zeitschriftenartikel
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)
62.
Zeitschriftenartikel
Ullmann, R.: Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen. Medizinische Genetik 20 (4), S. 401 - 405 (2008)
63.
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Muradyan, A.; Boldt, V.; Steininger, A.; Stabentheiner, S.; Tebel, K.; Kreutzberger, J.; Müller, I.; Madle, H.; Popper, H. H.; Ullmann, R.: An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 132 (10), S. 1557 - 1561 (2008)
64.
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Muradyan, A.; Boldt, V.; Steininger, A.; Stabentheiner, S.; Tebel, K.; Kreutzberger, J.; Müller, I.; Madle, H.; Popper, H. H.; Ullmann, R.: An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 132 (10), S. 1557 - 1561 (2008)
65.
Zeitschriftenartikel
Tészás, A.; Møller, R. S.; Kellermayer, R.; Czakó, M.; Kjaer, K. W.; Ullmann, R.; Melegh, B.; Tommerup, N.; Kosztolányi, G.: A cryptic unbalanced translocation resulting in del 13q and dup 15q. American Journal of Medical Genetics Part A 146A (19), S. 2570 - 2573 (2008)
66.
Zeitschriftenartikel
Erdogan, F.; Larsen, L. A.; Zhang, L.; Tümer, Z.; Tommerup, N.; Chen, W.; Jacobsen, J. R.; Schubert, M.; Jurkatis, J.; Tzschach, A. et al.; Ropers, H. H.; Ullmann, R.: High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics 11, S. 705 - 709 (2008)
67.
Zeitschriftenartikel
Klopocki, E.; Graul-Neumann, L. M.; Grieben, U.; Tönnies, H.; Ropers, H.-H.; Horn, D.; Mundlos, S.; Ullmann, R.: A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 167 (8), S. 903 - 908 (2008)
68.
Zeitschriftenartikel
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)
69.
Zeitschriftenartikel
Busche, A.; Klopocki, E.; Ullmann, R.; Mundlos, S.; Horn, D.: A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics 51 (6), S. 615 - 621 (2008)
70.
Zeitschriftenartikel
Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), S. 560 - 565 (2008)
71.
Zeitschriftenartikel
Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), S. 560 - 565 (2008)
72.
Zeitschriftenartikel
Kaalund, S. S.; Møller, R. S.; Tészás, A.; Miranda, M.; Kosztolanyi, G.; Ullmann, R.; Tommerup, N.; Tümer, Z.: Investigation of 4q-deletion in two unrelated patients using array CGH. American Journal of Medical Genetics: Part A 146 A (18), S. 2431 - 2434 (2008)
73.
Zeitschriftenartikel
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)
74.
Zeitschriftenartikel
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)
75.
Zeitschriftenartikel
Kirov, G.; Gumus, D.; Chen, W.; Norton, N.; Georgieva, L.; Sari, M.; O’Donovan, M. C.; Erdogan, F.; Owen, M. J.; Ropers, H.-H. et al.; Ullmann, R.: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics 17 (3), S. 458 - 465 (2008)
76.
Zeitschriftenartikel
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)
77.
Zeitschriftenartikel
Engenheiro, E.; Møller, R.; Pinto, M.; Soares, G.; Nikanorova, M.; Carreira, I.; Ullmann, R.; Tommerup, N.; Tümer, Z.: Mowat-Wilson syndrome: an underdiagnosed syndrome? Clinical Genetics: an International Journal of Genetics and Molecular Medicine 73 (6), S. 579 - 584 (2008)
78.
Zeitschriftenartikel
Møller, R. S.; Schneider, L. M.; Hansen, C. P.; Bugge, M.; Ullmann, R.; Tommerup, N.; Tümer, Z.: Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia 49 (6), S. 1091 - 1094 (2008)
79.
Zeitschriftenartikel
Scheffer, I. E.; Turner, S. J.; Dibbens, L. M.; Bayly, M. A.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Chen, W.; Ullmann, R. et al.; Ropers, H.-H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M. Y.; Andrews, P. I.; Wallace, G.; Kivity, S.; Lev, D.; Lerman-Sagie, T.; Derry, C. P.; Korczyn, A. D.; Gecz, J.; Mulley, J. C.; Berkovic, S. F.: Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 131 (4), S. 918 - 927 (2008)
80.
Zeitschriftenartikel
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)
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