Publikationen von Stefan Mundlos

Dlugaszewska, B.; Silahtaroglu, A.; Menzel, C.; Kübart, S.; Cohen, M.; Mundlos, S.; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, H.-H. et al.; Tommerup, N.; Neitzerl, H.; Kalscheuer, V. M.: Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 43 (2), S. 111 - 118 (2006)

Zemojtel, T.; Kolanczyk, M.; Kossler, N.; Stricker, S.; Lurz, R.; Mikula, I.; Duchniewicz, M.; Schuelke, M.; Ghafourifar, P.; Martasek, P. et al.; Vingron, M.; Mundlos, S.: Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters 580 (2), S. 455 - 462 (2006)

Seemann, P.; Schwappacher, R.; Kjaer, K. W.; Krakow, D.; Lehmann, K.; Dawson, K.; Stricker, S.; Pohl, J.; Ploeger, F.; Staub, E. et al.; Nickel, J.; Sebald, W.; Knaus, P.; Mundlos, S.: Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. Journal of Clinical Investigation 115 (9), S. 2373 - 2381 (2005)

Sammar, M.; Stricker, S.; Schwabe, G. C.; Sieber, C.; Hartung, A.; Hanke, M.; Oishi, I.; Pohl, J.; Minami, Y.; Sebald, W. et al.; Mundlos, S.; Knaus, P.: Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells 9 (12), S. 1227 - 1238 (2004)

Innis, J. W.; Mortlock, D.; Chen, Z.; Ludwig, M.; Williams, M. E.; Williams, T. M.; Doyle, C. D.; Shao, Z.; Glynn, M.; Mikulic, D. et al.; Lehmann, K.; Mundlos, S.; Utsch, B.: Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics 13 (22), S. 2841 - 2851 (2004)

Albrecht, A. N.; Kornak, U.; Böddrich, A.; Süring, K.; Robinson, P. N.; Stiege, A. C.; Lurz, R.; Stricker, S.; Wanker, E. E.; Mundlos, S.: A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 13 (20), S. 2351 - 2359 (2004)

Robinson, P. N.; Böhme, U.; Lopez, R.; Mundlos, S.; Nürnberg, P.: Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics 13 (17), S. 1969 - 1978 (2004)

Thiele, H.; Sakano, M.; Kitagawa, H.; Sugahara, K.; Rajab, A.; Höhne, W.; Ritter, H.; Leschik, G.; Nürnberg, P.; Mundlos, S.: Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences 101 (27), S. 10155 - 10160 (2004)

Bartels, C. F.; Bükülmez, H.; Padayatti, P.; Rhee, D. K.; van Ravenswaaij-Arts, C.; Pauli, R. M.; Mundlos, S.; Chitayat, D.; Shih, L.-Y.; Al-Gazali, L. I. et al.; Kant, S.; Cole, T.; Morton, J.; Cormier-Daire, V.; Faivre, L.; Lees, M.; Kirk, J.; Mortier, G. R.; Leroy, J.; Zabel, B.; Kim, C. A.; Crow, Y.; Braverman, N. E.; van den Akker, F.; Warman, M. L.: Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics 75 (1), S. 27 - 34 (2004)

Rajab, A.; Kunze, J.; Mundlos, S.: Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics 126A (4), S. 413 - 419 (2004)

Schwabe, G. C.; Mundlos, S.: Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie 36 (2-3), S. 85 - 97 (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.; 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)

Thiele, H.; McCann, C.; van't Padje, S.; Schwabe, G. C.; Hennies, H. C.; Camera, G.; Opitz, J.; Laxova, R.; Mundlos, S.; Nurnberg, P.: Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 41 (3), S. 213 - 218 (2004)

Thiele, H.; McCann, C.; van’t Padje, S.; Schwabe, G. C.; Hennies, H. C.; Camera, G.; Opitz, J.; Laxova, R.; Mundlos, S.; Nürnberg, P.: Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 41 (3), S. 213 - 218 (2004)

Schwabe, G. C.; Trepczik, B.; Süring, K.; Brieske, N.; Tucker, A. S.; Sharpe, P. T.; Minami, Y.; Mundlos, S.: Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics 229 (2), S. 400 - 410 (2004)

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), S. 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), 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)