Suchergebnisse

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)

Unger, S.; Mornet, E.; Mundlos, S.; Blaser, S.; Cole, D. E.: Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics 161 (11), S. 623 - 626 (2002)

Sander, T.; Toliat, M. R.; Heils, A.; Leschik, G.; Becker, C.; Rüschendorf, F.; Rohde, K.; Mundlos, S.; Nürnberg, P.: Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Research 51 (3), S. 249 - 255 (2002)

Stricker, S.; Fundele, R.; Vortkamp, A.; Mundlos, S.: Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 245 (1), S. 95 - 108 (2002)

Stricker, S.; Fundele, R.; Vortkamp, A.; Mundlos, S.: Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 245 (1), S. 95 - 108 (2002)

Stricker, S.; Fundele, R.; Vortkamp, A.; Mundlos, S.: Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 245 (1), S. 95 - 108 (2002)

Kalache, K. D.; Lehmann, K.; Chaoui, R.; Kivelitz, D. E.; Mundlos, S.; Bollmann, R.: Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis 22 (5), S. 404 - 407 (2002)

Otto, F.; Kanegane, H.; Mundlos, S.: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation 19 (3), S. 209 - 216 (2002)

Albrecht, A. N.; Schwabe, G. C.; Stricker, S.; Böddrich, A.; Wanker, E. E.; Mundlos, S.: The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development 112 (1-2), S. 53 - 67 (2002)

Albrecht, A. N.; Schwabe, G. C.; Stricker, S.; Böddrich, A.; Wanker, E. E.; Mundlos, S.: The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development 112 (1-2), S. 53 - 67 (2002)

Mundlos, S.; Horn, D.: Limb Malformations – An Atlas of Genetic Disorders of Limb Development. Springer-Verlag, Berlin, Heidelberg (2014), 767 S.