Publikationen von Stefan Mundlos

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)

Kornak, U.; Mundlos, S.: Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 73 (3), S. 447 - 474 (2003)

Stricker, S.; Poustka, A. J.; Wiecha, U.; Stiege, A.; Hecht, J.; Panopoulou, G.; Vilcinskas, A.; Mundlos, S.; Seitz, V.: A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. Developmental and Comparative Immunology 27 (8), S. 673 - 684 (2003)

Oishi, I.; Suzuki, H.; Onishi, N.; Takada, R.; Kani, S.; Ohkawara, B.; Koshida, I.; Suzuki, K.; Yamada, G.; Schwabe, G. C. et al.; Mundlos, S.; Shibuya, H.; Takada, S.; Minami, Y.: The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes to Cells 8 (7), S. 645 - 654 (2003)

Stock, M.; Schafer, H.; Stricker, S.; Gross, G.; Mundlos, S.; Otto, F.: Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 278 (19), S. 17360 - 17367 (2003)

Stock, M.; Schäfer, H.; Stricker, S.; Gross, G.; Mundlos, S.; Otto, F.: Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 278 (19), S. 17360 - 17367 (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)

Morava, É.; Kárteszi, J.; Weisenbach, J.; Caliebe, A.; Mundlos, S.; Méhes, K.: Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics 161 (11), S. 619 - 622 (2002)