Publikationen von Reinhard Ullmann

Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans-Hilger Ropers, Kirsten Harvey, and Robert J. Harvey, "A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation," Human Mutation 30 (1), 61-68 (2009).

Reinhard Ullmann, "Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen," Medizinische Genetik 20 (4), 401-405 (2008).

Artur Muradyan, Vivien Boldt, Anne Steininger, Stephanie Stabentheiner, Katrin Tebel, Jürgen Kreutzberger, Ines Müller, Hannelore Madle, Helmut H. Popper, and Reinhard Ullmann, "An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors," Archives of Pathology and Laboratory Medicine 132 (10), 1557-1561 (2008).

Artur Muradyan, Vivien Boldt, Anne Steininger, Stephanie Stabentheiner, Katrin Tebel, Jürgen Kreutzberger, Ines Müller, Hannelore Madle, Helmut H. Popper, and Reinhard Ullmann, "An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors," Archives of Pathology and Laboratory Medicine 132 (10), 1557-1561 (2008).

Alexandra Tészás, Rikke S Møller, Richard Kellermayer, Márta Czakó, Klaus W. Kjaer, Reinhard Ullmann, Béla Melegh, Niels Tommerup, and György Kosztolányi, "A cryptic unbalanced translocation resulting in del 13q and dup 15q," American Journal of Medical Genetics Part A 146A (19), 2570-2573 (2008).

F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, Wei Chen, J R Jacobsen, M Schubert, J Jurkatis, Andreas Tzschach, Hans Hilger Ropers, and Reinhard Ullmann, "High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease," Journal of Medical Genetics 11, 705-709 (2008).

Eva Klopocki, Luitgard M. Graul-Neumann, Ulrike Grieben, Holger Tönnies, Hans-Hilger Ropers, Denise Horn, Stefan Mundlos, and Reinhard Ullmann, "A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH," European Journal of Pediatrics 167 (8), 903-908 (2008).

Vera M. Kalscheuer, Ilse Feenstra, Conny M. A. Van Ravenswaaij-Arts, Dominique F.C.M. Smeets, Corinna Menzel, Reinhard Ullmann, Luciana Musante, and Hans-Hilge r Ropers, "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), 2053-2059 (2008).

Andreas Busche, Eva Klopocki, Reinhard Ullmann, Stefan Mundlos, and Denise Horn, "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), 615-621 (2008).

Elisabeth Steichen-Gersdorf, I . Gaßner, A . Superti-Furga, Reinhard Ullmann, Sigmar Stricker, E . Klopocki, and Stefan Mundlos, "Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4," Clinical Genetics 74 (6), 560-565 (2008).

Elisabeth Steichen-Gersdorf, I . Gaßner, A . Superti-Furga, Reinhard Ullmann, Sigmar Stricker, E . Klopocki, and Stefan Mundlos, "Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4," Clinical Genetics 74 (6), 560-565 (2008).

S. S. Kaalund, R. S. Møller, A. Tészás, M. Miranda, G. Kosztolanyi, Reinhard Ullmann, Niels Tommerup, and Z. Tümer, "Investigation of 4q-deletion in two unrelated patients using array CGH," American Journal of Medical Genetics: Part A 146 A (18), 2431-2434 (2008).

Rikke S. Mller, Sabine Kübart, Maria Hoeltzenbein, Babett Heye, Ida Vogel, Christian P. Hansen, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, and Vera M. Kalscheuer, "Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly," The American Journal of Human Genetics 82 (5), 1165-1170 (2008).

Wei Chen, Vera Kalscheuer, Andreas Tzschach, Corinna Menzel, Reinhard Ullmann, Marcel Holger Schulz, Fikret Erdogan, Li Na, Zofia Kijas, Ger Arkesteijn, Isidora Lopez Pajares, Margret Goetz-Sothmann, Uwe Heinrich, Imma Rost, Andreas Dufke, Ute Grasshoff, Birgitta Glaeser, Martin Vingron, and H. Hilger Ropers, "Mapping translocation breakpoints by next-generation sequencing," Genome Research 18 (7), 1143-1149 (2008).

George Kirov, Dilihan Gumus, Wei Chen, Nadine Norton, Lyudmila Georgieva, Murat Sari, Michael C. O’Donovan, Fikret Erdogan, Michael J. Owen, Hans-Hilger Ropers, and Reinhard Ullmann, "Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia," Human Molecular Genetics 17 (3), 458-465 (2008).

Andreas Tzschach, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers, Reinhard Ullmann, Fikret Erdogan, Jan Jurkatis, Corinna Menzel, Vera M. Kalscheuer, and Stephanie Demuth, "Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)," Ophthalmic Genetics 29 (1), 37-40 (2008).

E Engenheiro, RS Møller, M Pinto, G Soares, M Nikanorova, IM Carreira, Reinhard Ullmann, N. Tommerup, and Z. Tümer, "Mowat-Wilson syndrome: an underdiagnosed syndrome?," Clinical Genetics: an International Journal of Genetics and Molecular Medicine 73 (6), 579-584 (2008).

Rikke S. Møller, Lizette M. Schneider, Christian P. Hansen, Merete Bugge, Reinhard Ullmann, Niels Tommerup, and Zeynep Tümer, "Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A," Epilepsia 49 (6), 1091-1094 (2008).

Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans-Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman-Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gecz, John C. Mulley, and Samuel F. Berkovic, "Epilepsy and mental retardation limited to females: an under-recognized disorder," Brain 131 (4), 918-927 (2008).

Joanna Walczak-Sztulpa, Marzena Wisniewska, Anna Latos-Bielenska, Maja Linné, Christina Kelbova, Britta Belitz, Lutz Pfeiffer, Vera M. Kalscheuer, Fikret Erdogan, Andreas W. Kuss, Hans-Hilger Ropers, Reinhard Ullmann, and Andreas Tzschach, "Chromosome deletions in 13q33-34: Report of four patients and review of the literature," American Journal of Medical Genetics Part A 146 (3), 337-342 (2008).