Publikationen von Reinhard Ullmann

Jakubiczka, S.; Schröder, C.; Ullmann, R.; Volleth, M.; Ledig, S.; Gilberg, E.; Kroisel, P.; P. Wieacker, P.: Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal. Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation 4 (3), S. 143 - 149 (2010)

Tzschach, A.; Menzel, C.; Erdogan, F.; Istifli, E. S.; Rieger, M.; Ovens-Raeder, A.; Macke, A.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152A (4), S. 1008 - 1012 (2010)

Lesch, K.-P.; Selch, S.; Renner, T. J.; Jacob, C.; Nguyen, T. T.; Hahn, T.; Romanos, M.; Walitza, S.; Shoichet, S.; Dempfle, A. et al.; Heine, M.; Boreatti-Hümmer, A.; Romanos, J.; Gross-Lesch, S.; Zerlaut, H.; Wultsch, T.; Heinzel, S.; Fassnacht, M.; Fallgatter, A.; Allolio, B.; Schäfer, H.; A Warnke, A.; Reif, A. ..; Ropers, H.-H.; Ullmann, R.: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree1. Molecular Psychiatry, S. 1 - 13 (2010)

Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), S. 291 - 295 (2010)

Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), S. 291 - 295 (2010)

Boldt, V.; Stacher, E.; Halbwedl, I.; Popper, H.; Hultschig, C.; Moinfar, F.; Ullmann, R.; Tavassoli, F. A.: Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade3) within the sequence of breast carcinoma progression. Genes Chromosomes Cancer 49 (5), S. 463 - 470 (2010)

Boldt, V.; Stacher, E.; Halbwedl, I.; Popper, H.; Hultschig, C.; Moinfar, F.; Ullmann, R.; Tavassoli, F. A.: Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade3) within the sequence of breast carcinoma progression. Genes Chromosomes Cancer 49 (5), S. 463 - 470 (2010)

Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A. C.; Oudakker, A. R.; Kjaergaard, S.; Vianna-Morgante, A. M.; Kleefstra, T.; Ruiter, M.; Jehee, F. S. et al.; Ullmann, R.; Schwartz, C. E.; Stratton, M.; Raymond, F. L.; Veltman, J. A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J. H.M.; Hehir-Kwa, J. Y.; Froyen, G.; Chelly, J.; Ropers, H.-H.; Moraine, C.; Gècz, J.; Knijnenburg, J.; Kant, S. G.; Hamel, B. C.J.; Rosenberg, C.; van Bokhoven, H.; de Brouwer, A. P.M.: Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A. 152A (3), S. 638 - 645 (2010)

Attarbaschi, A.; Pisecker, M.; Inthal, A.; Mann, G.; Janousek, D.; Dworzak, M.; Pötschger, U.; Ullmann, R.; Schrappe, M.; Gadner, H. et al.; Haas, O. A.; Panzer-Grümayer, R.; Strehl, S.: Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin–Frankfurt–Münster (BFM) protocols containing early and late re-intensification elements. British Journal of Hematology 148 (2), S. 293 - 300 (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)

Haensel, J.; Kohlschmidt, N.; Pitz, S.; Keilmann, A.; Zenker, M.; Ullmann, R.; Haaf, T.; Bartsch, O.: Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. American Journal of Medical Genetics Part A 149 (10), S. 2236 - 2240 (2009)

Hilhorst-Hofstee, Y.; Tümer, Z.; Born, P.; Knijnenburg, J.; Hansson, K.; Yatawara, V.; Steensberg, J.; Ullmann, R.; Arkesteijn, G.; Tommerup, N. et al.; Larsen, L. A.: Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. American Journal of Medical Genetics Part A 149 (8), S. 1830 - 1833 (2009)

Najm, J.; Horn, D.; Wimplinger, I.; Golden, J. A.; Chizhikov, V. V.; Sudi, J.; Christian, S. L.; Ullmann, R.; Kuechler, A.; Haas, C. A. et al.; Flubacher, A.; Charnas, L. R.; Uyanik, G.; Frank, U.; Klopocki, E.; Dobyns, W. B.; Kutsche, K.: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), S. 1065 - 1067 (2009)

Zhang, L.; Tümer, Z.; Møllgård, K.; Barbi, G.; Rossier, E.; Bendsen, E.; Møller, R. S.; Ullmann, R.; He, J.; Papadopoulos, N. et al.; Tommerup, N.; Larsen, L. A.: Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. European Journal of Human Genetics 17 (8), S. 1010 - 1018 (2009)

Kariminejad, A.; Kariminejad, R.; Tzschach, A.; Ullmann, R.; Ahmed, A.; Asghari-Roodsari, A.; Salehpour, S.; Afroozan, F.; Ropers, H.-H.; Kariminejad, M. H.: Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A 149 (7), S. 1544 - 1549 (2009)

Raile, K.; Klopocki, E.; Holder, M.; Wessel, T.; Galler, A.; Deiss, D.; Müller, D.; Riebel, T.; Horn, D.; Maringa, M. et al.; Weber, J.; Ullmann, R.; Grüters, A.: Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 94 (7), S. 2658 - 2664 (2009)

Shoichet, S. A.; Waibel, S.; Endruhn, S.; Sperfeld, A. D.; Vorwerk, B.; Mümlller, I.; Erdogan, F.; Ludolph, A. C.; Ropers, H.-H.; Ullmann, R.: Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis 10 (3), S. 162 - 169 (2009)

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)

Zatkova, A.; Merk, S.; Wendehack, M.; Bilban, M.; Muzik, E. M.; Muradyan, A.; Haferlach, C.; Haferlach, T.; Wimmer, K.; Fonatsch, C. et al.; Ullmann, R.: AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes. Genes, Chromosomes and Cancer 48 (6), S. 510 - 520 (2009)

Tzschach, A.; Graul-Neumann, L. M.; Konrat, K.; Richter, R.; Ebert, G.; Ullmann, R.; Neitzel, H.: Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature. American Journal of Medical Genetics Part A 149 (2), S. 242 - 245 (2009)