Publications of S. Türkmen

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

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

Turkmen, S.; Riehn, M.; Klopocki, E.; Molkentin, M.; Reinhardt, R.; Burmeister, T.: 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), pp. 389 - 96 (2011)

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

Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D. J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E. C.; Abuelo, D. N. et al.; Adamowicz, M.; Al-Aama, J.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M. T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Türkmen, S.; Tuysuz, B.; Yüksel-Konuk, B.; Mundlos, S.; Van Maldergem, L.; Wevers, R. A.; Urban, Z.: Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 18 (12), pp. 2149 - 2165 (2009)

Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, p. e1000487 - e1000487 (2009)

Humphrey, N.; Mundlos, S.; Türkmen, S.: Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America 105 (21), p. E26 - E26 (2008)

Türkmen, S.; Hoffmann, K. ..; Demirhan, O.; Aruoba, D.; Humphrey, N.; Mundlos, S.: Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics 16, pp. 1070 - 1074 (2008)

Meyer, S.; Fergusson, W. D.; Whetton, A. D.; Moreira-Leite, F.; Pepper, S. D.; Miller, C.; Saunders, E. K.; White, D. J.; Will, A. M.; Eden, T. et al.; Ikeda, H.; Ullmann, R.; Tuerkmen, S.; Gerlach, A.; Klopocki, E.; Tönnies, H.: 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), pp. 359 - 372 (2007)

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

Schwabe, G. C.; Türkmen, S.; Leschik, G.; Palanduz, S.; Stöver, B.; Goecke, T. O.; Mundlos, S.: Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics 124A (4), pp. 356 - 363 (2004)

Tuerkmen, S.; Gillessen-Kaesbach, G.; Meinecke, P.; Albrecht, B.; Neumann, L. M.; Hesse, V.; Palanduz, S.; Balg, S.; Majewski, F.; Fuchs, S. et al.; Zschieschang, P.; Greiwe, M.; Mennicke, K.; Kreuz, F. R.; Dehmel, H. J.; Rodeck, B.; Kunze, J.; Tinschert, S.; Mundlos, S.; Horn, D.: 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), pp. 858 - 865 (2003)

Katzke, S.; Booms, P.; Tiecke, F.; Palz, M.; Pletschacher, A.; Türkmen, S.; Neumann, L. M.; Pregla, R.; Leitner, C.; Schramm, C. et al.; Lorenz, P.; Hagemeier, C.; Fuchs, J.; Skovby, F.; Rosenberg, T.; Robinson, P. N.: TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Human Mutation 20 (3), pp. 197 - 208 (2002)