Publikationen von S. Türkmen

A. Bokemeyer, C. Eckert, F. Meyr, G. Koerner, A. von Stackelberg, R. Ullmann, S. Türkmen, G. Henze, and K. Seeger, "Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia," Haematologica 99 (4), 706-714 (2014).

O. Blau, C. D. Baldus, W. K. Hofmann, G. Thiel, F. Nolte, T. Burmeister, S. Turkmen, O. Benlasfer, E. Schumann, A. Sindram, M. Molkentin, S. Mundlos, U. Keilholz, E. Thiel, and I. W. Blau, "Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts," Blood 118 (20), 5583-92 (2011).

S. Turkmen, M. Riehn, E. Klopocki, M. Molkentin, R. Reinhardt, and T. Burmeister, "A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1," Genes Chromosomes Cancer 50 (6), 389-96 (2011).

P. Villavicencio-Lorini, P. Kuss, J. Friedrich, J. Haupt, M. Farooq, S. Turkmen, D. Duboule, J. Hecht, and S. Mundlos, "Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation.," Journal of Clinical Investigation 120 (6), 1994-2004 (2010).

Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, and Zsolt Urban, "Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival," Human Molecular Genetics 18 (12), 2149-2165 (2009).

Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J. Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, and Peter N. Robinson, "CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait," PLoS Genetics 5, e1000487-e1000487 (2009).

Nicholas Humphrey, Stefan Mundlos, and Seval Türkmen, "Genes and quadrupedal locomotion in humans," Proceedings of the National Academy of Sciences of the United States of America 105 (21), E26-E26 (2008).

S. Türkmen, K . Hoffmann, Osman Demirhan, Defne Aruoba, N. Humphrey, and Stefan Mundlos, "Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene," European Journal of Human Genetics 16, 1070-1074 (2008).

Stefan Meyer, William D. Fergusson, Anthony D. Whetton, Flavia Moreira-Leite, Stuart D. Pepper, Crispin Miller, Emma K. Saunders, Daniel J. White, Andrew M. Will, Tim Eden, Hideyuki Ikeda, Reinhard Ullmann, Seval Tuerkmen, Antje Gerlach, Eva Klopocki, and Holger Tönnies, "Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.," Genes, Chromosomes and Cancer 46 (4), 359-372 (2007).

S. Türkmen, O. Demirhan, K. Hoffmann, A. Diers, C. Zimmer, K. Sperling, and S. Mundlos, "Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p," Journal of Medical Genetics 43 (5), 461-464 (2006).

Georg C. Schwabe, Seval Türkmen, Gundula Leschik, Sukru Palanduz, Brigitte Stöver, Timm O. Goecke, and Stefan Mundlos, "Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1," American Journal of Medical Genetics 124A (4), 356-363 (2004).

Seval Tuerkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, Beate Albrecht, Luitgard M. Neumann, Volker Hesse, Suekrue Palanduz, Stefanie Balg, Frank Majewski, Sigrun Fuchs, Petra Zschieschang, Monika Greiwe, Kirsteen Mennicke, Friedmar R. Kreuz, Harald J. Dehmel, Burkhard Rodeck, Juergen Kunze, Sigrid Tinschert, Stefan Mundlos, and Denise Horn, "Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes," European Journal of Human Genetics 11 (11), 858-865 (2003).

Stefanie Katzke, Patrick Booms, Frank Tiecke, Monika Palz, Angelika Pletschacher, Seval Türkmen, Luitgard M. Neumann, Reinhard Pregla, Christa Leitner, Cornelia Schramm, Peter Lorenz, Christian Hagemeier, Josefine Fuchs, Flemming Skovby, Thomas Rosenberg, and Peter N. Robinson, "TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies," Human Mutation 20 (3), 197-208 (2002).