Kolanczyk, M., M. Pech, T. Zemojte, H. Yamamoto, I. Mikula, M.-A. Calvaruso, M. van den Brand, R. Richter, B. Fischer, A. Ritz, N. Kossler, B. Thurisch, R. Spoerle, J. Smeitink, U. Kornak, D. Chan, M. Vingron, P. Martasek, R. N. Lightowlers, L. Nijtmans, M. Schuelke, K. H. Nierhaus and S. Mundlos: NOA1 is an essential GTPase required for mitochondrial protein synthesis. In: Molecular Biology of the Cell 22, 1, 1-11 (2011).
url: http://www.molbiolcell.org/cgi/content/abstract/mbc.E10-07-0643v1
doi: 10.1091/mbc.E10-07-0643
Cirstea, I. C., K. Kutsche, R. Dvorsky, L. Gremer, C. Carta, D. Horn, A. E. Roberts, F. Lepri, T. Merbitz-Zahradnik, R. König, C. P. Kratz, F. Pantaleoni, M. L. Dentici, V. A. Joshi, R. S. Kucherlapati, L. Mazzanti, S. Mundlos, M. A. Patton, M. C. Silengo, C. Rossi, G. Zampino, C. Digilio, L. Stuppia, E. Seemanova, L. A. Pennacchio, B. D. Gelb, B. Dallapiccola, A. Wittinghofer, M. R. Ahmadian, M. Tartaglia and M. Zenker: A restricted spectrum of NRAS mutations causes Noonan syndrome. In: Nature Genetics 42, 1, 27-29, Seq. No.: 1 (2010).
url: http://dx.doi.org/10.1038/ng.497
van Wijk, N. V., F. Witte, A. C. Feike, A. Schambony, W. Birchmeier, S. Mundlos and S. Stricker: The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. In: Biochemical and Biophysical Research Communications 390, 2, 211-216 (2009).
url: http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6WBK-4X9TTRS-3-7&_cdi=6713&_user=127795&_pii=S0006291X09018956&_orig=browse&_coverDate=12%2F11%2F2009&_sk=996099997&view=c&wchp=dGLzVzz-zSkWb&md5=c9f5ca81e4f3eb0d7f3d49493d36036c&ie=/sdarticle.pdf
Seemann, P., A. Brehm, J. König, C. Reissner, S. Stricker, P. Kuss, J. Haupt, S. Renninger, J. Nickel, W. Sebald, J. C. Groppe, F. Plöger, M. Schmidt-von Kegler, M. Walther, I. Gassner, C. Rusu, A. R. Janecke, K. Dathe and S. Mundlos: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. In: PLoS Genetics 5, 11, e1000747-e1000747 (2009).
doi: 10.1371/journal.pgen.1000747
url: http://www.plosgenetics.org/article/fetchObjectAttachment.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1000747&representation=PDF
Weise, A., B. Timmermann, M. Grabherr, M. Werber, P. Heyn, N. Kosyakova, T. Liehr, H. Neitzel, K. Konrat, C. Bommer, C. Dietrich, A. Rajab, R. Reinhardt, S. Mundlos, T. H. Lindner and K. Hoffmann: High-throughput sequencing of microdissected chromosomal regions.. In: European Journal of Human Genetics, Seq. No.: ejhg.2009.196 (2009).
url: http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg2009196a.html
doi: 10.1038/ejhg.2009.196
Schwarzer, W., F. Witte, A. Rajab, S. Mundlos and S. Stricker: A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. In: Human Molecular Genetics 18, 21, 4013-4021 (2009).
doi: 10.1093/hmg/ddp345
url: http://hmg.oxfordjournals.org/cgi/reprint/18/21/4013
Köhler, S., M. H. Schulz, S. Bauer, S. Dölken, C. E. Ott, C. Mundlos, D. Horn, S. Mundlos and P. N. Robinson: Clinical Diagnostics with Semantic Similarity Searches in Ontologies.. In: The American Journal of Human Genetics 85, 4, 457-464 (2009).
url: http://www.cell.com/AJHG/abstract/S0002-9297(09)00399-1
doi: 10.1016/j.ajhg.2009.09.003
Elefteriou, F., M. Kolanczyk, A. Schindeler, D. H. Viskochil, J. M. Hock, E. K. Schorry, A. H. Crawford, J. M. Friedman, D. Little, J. Peltonen, J. C. Carey, D. Feldman, X. Yu, L. Armstrong, P. Birch, D. L. Kendler, S. Mundlos, F.-C. Yang, G. Agiostratidou, K. Hunter-Schaedle and D. A. Stevenson: Skeletal abnormalities in neurofibromatosis type 1 : approaches to therapeutic options. In: American Journal of Medical Genetics Part A 149A, 10, 2327-2338 (2009).
doi: 10.1002/ajmg.a.33045
url: http://www3.interscience.wiley.com/cgi-bin/fulltext/122600047/PDFSTART
Reversade, B., N. Escande-Beillard, A. Dimopoulou, B. Fischer, S. C. Chng, Y. Li, M. Shboul, P.-Y. Tham, H. Kayserili, L. Al-Gazali, M. Shahwan, F. Brancati, H. Lee, B. D. O'Connor, M. Schmidt-von Kegler, B. Merriman, S. F. Nelson, A. Masri, F. Alkazaleh, D. Guerra, P. Ferrari, A. Nanda, A. Rajab, D. Markie, M. Gray, J. Nelson, A. Grix, A. Sommer, R. Savarirayan, A. R. Janecke, E. Steichen, D. Sillence, I. Haußer, B. Budde, G. Nürnberg, P. Nürnberg, P. Seemann, D. Kunkel, G. Zambruno, B. Dallapiccola, M. Schuelke, S. Robertson, H. Hamamy, B. Wollnik, L. Van Maldergem, S. Mundlos and U. Kornak: Mutations in PYCR1 cause cutis laxa with progeroid features. In: Nature Genetics 41, 1016-1021 (2009).
doi: 10.1038/ng.413
url: http://www.nature.com/ng/journal/v41/n9/pdf/ng.413.pdf
Kurth, I., E. Klopocki, S. Stricker, J. van Oosterwijk, S. Vanek, J. Altmann, H. G. Santos, J. J. T. van Harssel, T. de Ravel, A. O. M. Wilkie, A. Gal and S. Mundlos: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. In: Nature Genetics 41, 8, 862-863 (2009).
doi: 10.1038/ng0809-862
url: http://www.nature.com/ng/journal/v41/n8/pdf/ng0809-862.pdf
http://edoc.mpg.de
The Max Planck Society does not take any responsibility for the content of this export.