Publikationen von Stefan Mundlos

Alt, B.; Elsalini, O. A.; Schrumpf, P.; Haufs, N.; Lawson, N. D.; Schwabe, G. C.; Mundlos, S.; Grüters, A.; Krude, H.; Rohr, K. B.: Arteries define the position of the thyroid gland during its developmental relocalisation. Development 133 (19), S. 3797 - 3804 (2006)

Stricker, S.; Brieske, N.; Haupt, J.; Mundlos, S.: Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development. Gene Expression Patterns 6 (8), S. 826 - 834 (2006)

Hoffmann, K.; Müller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I. et al.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochmüller, H.; Hübner, C.; Mundlos, S.: Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit. American Journal of Human Genetics (Chicago, IL) 79 (2), S. 303 - 312 (2006)

Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G. et al.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, S.: Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome. American Journal of Human Genetics (Chicago, IL) 79 (2), S. 402 - 408 (2006)

Koch, M.; Veit, G.; Stricker, S.; Bhatt, P.; Kutsch, S.; Zhou, P.; Reinders, E.; Hahn, R. A.; Song, R.; Burgeson, R. E. et al.; Gerecke, D. R.; Mundlos, S.; Gordon, M. K.: Expression of Type XXIII Collagen mRNA and Protein. Journal of Biological Chemistry 281 (30), S. 21546 - 21557 (2006)

Hecht, J.; Kuhl, H.; Haas, S. A. ..; Bauer, S.; Poustka, A. J.; Lienau, J.; Schell, H.; Stiege, A. C.; Seitz, V.; Reinhardt, R. et al.; Duda, G. N.; Mundlos, S.; Robinson, P. N.: Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics 7, S. 172 - 192 (2006)

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), S. 461 - 464 (2006)

Dawson, K.; Seemann, P.; Sebald, E.; King, L.; Edwards, M.; Williams III, J.; Mundlos, S.; Krakow, D.: GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. American Journal of Human Genetics (Chicago, IL) 78 (4), S. 708 - 712 (2006)

Klopocki, E.; Fiebig, B.; Robinson, P. N.; Tönnies, H.; Erdogan, F.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. American Journal of Medical Genetics Part A 140A (8), S. 873 - 877 (2006)

Kjaer, K. W.; Eiberg, H.; Hansen, L.; van der Hagen, C. B.; Rosendahl, K.; Tommerup, N.; Mundlos, S.: A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Journal of Medical Genetics (London) 43 (3), S. 225 - 231 (2006)

Booms, P.; Ney, A.; Barthel, F.; Moroy, G.; Counsell, D.; Gille, C.; Guo, G.; Pregla, R.; Mundlos, S.; Alix, A. J. P. et al.; Robinson, P. N.: A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. Journal of Molecular and Cellular Cardiology (London) 40 (2), S. 234 - 246 (2006)

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)

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)