Publications of Stefan Mundlos

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), pp. 1274 - 1279 (2006)

Lehmann, K.; Seemann, P.; Boergermann, J.; Morin, G.; Reif, S.; Knaus, P.; Mundlos, S.: A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. European Journal of Human Genetics 14 (12), pp. 1248 - 1254 (2006)

Stricker, S.; Van Wijk, N. V.; Witte, F.; Brieske, N.; Seidel, K.; Mundlos, S.: Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Developmental Dynamics 235 (12), pp. 3456 - 3465 (2006)

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), pp. 1656 - 1660 (2006)

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), pp. 1656 - 1660 (2006)

Zemojtel, T.; Fröhlich, A.; Palmieri, M. C.; Kolanczyk, M.; Mikula, I.; Wyrwicz, L. S.; Wanker, E. E.; Mundlos, S.; Vingron, M.; Martasek, P. et al.; Durner, J.: Plant nitric oxide synthase: a never-ending story? Trends in Plant Science 11 (11), pp. 524 - 525 (2006)

Guo, G.; Booms, P.; Halushka, M.; Dietz, H. C.; Ney, A.; Stricker, S.; Hecht, J.; Mundlos, S.; Robinson, P. N.: Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment. Circulation 17, pp. 1855 - 1862 (2006)

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), pp. 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), pp. 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), pp. 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), pp. 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), pp. 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, pp. 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), pp. 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), pp. 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), pp. 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), pp. 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), pp. 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), pp. 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), pp. 111 - 118 (2006)