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
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
Kuss, P., P. Villavicencio-Lorini, F. Witte, J. Klose, A. N. Albrecht, P. Seemann, J. Hecht and S. Mundlos: Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. In: Journal of Clinical Investigation 119, 1, 146-156 (2009).
doi: 10.1172/JCI36851
url: http://www.jci.org/articles/view/36851/pdf
Plöger, F., P. Seemann, M. Schmidt-von Kegler, K. Lehmann, J. Seidel, K. W. Kjaer, J. Pohl and S. Mundlos: Brachydactyly type A2 associated with a defect in proGDF5 processing. In: Human Molecular Genetics 17, 9, 122-133 (2008).
url: http://hmg.oxfordjournals.org/cgi/reprint/17/9/1222?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=+Brachydactyly+type+A2+associated+with+a+defect+in+proGDF5+processing&searchid=1&FIRSTINDEX=0&resourcetype=HWCIT
doi: 10.1093/hmg/ddn012
Lehmann, K., P. Seemann, F. Silan, T. O. Goecke, M. Irgang, K. W. Kjaer, S. Kjaergaard, M. J. Mahoney, S. Morlot, C. Reissner, B. Kerr, A. O. M. Wilkie and S. Mundlos: A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.. In: The American Journal of Human Genetics : AJHG 81, 12, 388-396 (2007).
doi: 10.1086/519697
url: http://download.ajhg.org/AJHG/pdf/PIIS000292970761204X.pdf
Lehmann, K., P. Seemann, J. Boergermann, G. Morin, S. Reif, P. Knaus and S. Mundlos: A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. In: European Journal of Human Genetics 14, 12, 1248-1254 (2006).
doi: 10.1038/sj.ejhg.5201708
Dawson, K., P. Seemann, E. Sebald, L. King, M. Edwards, J. Williams III, S. Mundlos and D. Krakow: GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. In: American Journal of Human Genetics (Chicago, IL) 78, 4, 708-712 (2006).
Seemann, P., R. Schwappacher, K. W. Kjaer, D. Krakow, K. Lehmann, K. Dawson, S. Stricker, J. Pohl, F. Ploeger, E. Staub, J. Nickel, W. Sebald, P. Knaus and S. Mundlos: Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. In: Journal of Clinical Investigation 115, 9, 2373-2381 (2005).
doi: 10.1172/JCI25118.
Lehmann, K., P. Seemann, S. Stricker, M. Sammar, B. Meyer, K. Suering, F. Majewski, S. Tinschert, K.-H. Grzeschik, D. Mueller, P. Knaus, P. Nurnberg and S. Mundlos: Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. In: Proceedings of the National Academy of Sciences of the United States of America 100, 21, 12277-12282 (2003).
doi: 10.1073/pnas.2133476100
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