Journal Article (420)

361.
Journal Article
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)
362.
Journal Article
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)
363.
Journal Article
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)
364.
Journal Article
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)
365.
Journal Article
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)
366.
Journal Article
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)
367.
Journal Article
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), pp. 455 - 462 (2006)
368.
Journal Article
Duchniewicz, M.; Zemojtel, T.; Kolanczyk, M.; Grossmann, S.; Scheele, J. S.; Zwartkruis, F. J. T.: Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion. Molecular and Cellular Biology 26 (2), pp. 643 - 653 (2006)
369.
Journal Article
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), pp. 2373 - 2381 (2005)
370.
Journal Article
Resch-Genger, U.; Hoffmann, K.; Nietfeld, W.; Engel, A.; Neukammer, J.; Nitschke, R.; Ebert, P.; Macdonald, R.: How to improve quality assurance in fluorometry: fluorescence-inherent sources of error and suited fluorescence standards. Journal of Fluorescence 15 (3), pp. 337 - 362 (2005)
371.
Journal Article
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), pp. 1227 - 1238 (2004)
372.
Journal Article
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), pp. 2841 - 2851 (2004)
373.
Journal Article
Seelow, D.; Galli, R.; Mebus, S.; Sperling, H.-P.; Lehrach, H.; Sperling, S.: d-matrix – database exploration, visualization and analysis. BMC Bioinformatics 5, p. 168 - 168 (2004)
374.
Journal Article
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), pp. 2351 - 2359 (2004)
375.
Journal Article
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), pp. 1969 - 1978 (2004)
376.
Journal Article
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), pp. 10155 - 10160 (2004)
377.
Journal Article
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), pp. 27 - 34 (2004)
378.
Journal Article
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), pp. 413 - 419 (2004)
379.
Journal Article
Ramirez, A.; Faupel, J.; Goebel, I.; Stiller, A.; Beyer, S.; Stockle, C.; Hasan, C.; Bode, U.; Kornak, U.; Kubisch, C.: Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation 23 (5), pp. 471 - 476 (2004)
380.
Journal Article
Schwabe, G. C.; Mundlos, S.: Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie 36 (2-3), pp. 85 - 97 (2004)
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