Publikationen von Sigrid Tinschert

Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), S. 1870 - 1873 (2015)

Gregor, A.; Albrecht, B.; Bader, I.; Bijlsma, E. K.; Ekici, A. B.; Engels, H.; Hackmann, K.; Horn, D.; Hoyer, J.; Klapecki, J. et al.; Kohlhase, J.; Maystadt, I.; Nagl, S.; Prott, E.; Tinschert, S.; Ullmann, R.; Wohlleber, E.; Woods, G.; Reis, A.; Rauch, A.; Zweier, C.: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 12, S. 106 (2011)

Kolanczyk, M.; Mautner, V.; Kossler, N.; Nguyen, R.; Kuhnisch, J.; Zemojtel, T.; Jamsheer, A.; Wegener, E.; Thurisch, B.; Tinschert, S. et al.; Holtkamp, N.; Park, S. J.; Birch, P.; Kendler, D.; Harder, A.; Mundlos, S.; Kluwe, L.: MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 9, S. 82 (2011)

Harder, A.; Titze, S.; Herbst, L.; Harder, T.; Guse, K.; Tinschert, S.; Kaufmann, D.; Rosenbaum, T.; Mautner, V. F.; Windt, E. et al.; Wahlländer-Danek, U.; Wimmer, K.; Mundlos, S.; Peters, H.: Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies. 13 (6), S. 582 - 594 (2010)

Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.: Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. American Journal of Medical Genetics Part A 152A (4), S. 870 - 874 (2010)

Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), S. 1859 - 1864 (2008)

Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), S. 1859 - 1864 (2008)

Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hauber, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), S. 261 - 266 (2004)

Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hauber, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), S. 261 - 266 (2004)

Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hausser, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), S. 261 - 266 (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), S. 858 - 865 (2003)

Lehmann, K.; Seemann, P.; Stricker, S.; Sammar, M.; Meyer, B.; Suering, K.; Majewski, F.; Tinschert, S.; Grzeschik, K.-H. H.; Mueller, D. et al.; Knaus, P.; Nurnberg, P.; Mundlos, S.: Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America 100 (21), S. 12277 - 12282 (2003)

Kehrer-Sawatzki, H.; Tinschert, S.; Jenne, D. E.: Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. Journal of Medical Genetics 40 (10), S. e116 - e116 (2003)

Knoblauch, H.; Tennstedt, C.; Brueck, W.; Hammer, H.; Vulliamy, T.; Dokal, I.; Lehmann, R.; Hanefeld, F.; Tinschert, S.: Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). American Journal of Medical Genetics 120A (2), S. 261 - 265 (2003)

Schweiger, S.; Chaoui, R.; Tennstedt, C.; Lehmann, K.; Mundlos, S.; Tinschert, S.: Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review. American Journal of Medical Genetics Part A 120A (4), S. 547 - 552 (2003)

Schultz, E. S.; Kaufmann, D.; Tinschert, S.; Schell, H.; von den Driesch, P.; Schuler, G.: Segmental Neurofibromatosis. Dermatology 204 (4), S. 296 - 297 (2002)