Suchergebnisse

Zeitschriftenartikel (17)

1.
Zeitschriftenartikel
Degenkolbe, E.; Schwarz, C.; Ott, C. E.; Konig, J.; Schmidt-Bleek, K.; Ellinghaus, A.; Schmidt, T.; Lienau, J.; Ploger, F.; Mundlos, S. et al.; Duda, G. N.; Willie, B. M.; Seemann, P.: Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone 73, S. 111 - 119 (2015)
2.
Zeitschriftenartikel
Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development 21 (4), S. 623 - 633 (2012)
3.
Zeitschriftenartikel
Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics 88 (1), S. 70 - 75 (2011)
4.
Zeitschriftenartikel
Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88 (1), S. 70 - 5 (2011)
5.
Zeitschriftenartikel
Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-Skipped Related Genes Regulate Differentiation of Embryonic Limb Mesenchyme and Bone Marrow Mesenchymal Stromal Cells. Stem Cells Dev (2011)
6.
Zeitschriftenartikel
Timmermann, B.; Kerick, M.; Roehr, C.; Fischer, A.; Isau, M.; Boerno, S. T.; Wunderlich, A.; Barmeyer, C.; Seemann, P.; Koenig, J. et al.; Lappe, M.; Kuss, A. W.; Garshasbi, M.; Bertram, L.; Trappe, K.; Werber, M.; Herrmann, B. G.; Zatloukal, K.; Lehrach, H.; Schweiger, M. R.: Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS ONE 5 (12), S. e15661 - e15661 (2010)
7.
Zeitschriftenartikel
Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G. et al.; Hiort, O.; Seemann, P.; Mundlos, S.: Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics 86 (3), S. 434 - 439 (2010)
8.
Zeitschriftenartikel
Seemann, P.; Brehm, A.; König, J.; Reissner, C.; Stricker, S.; Kuss, P.; Haupt, J.; Renninger, S.; Nickel, J.; Sebald, W. et al.; Groppe, J. C.; Plöger, F.; Schmidt-von Kegler, M.; Walther, M.; Gassner, I.; Rusu, C.; Janecke, A. R.; Dathe, K.; Mundlos, S.: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 5 (11), S. e1000747 - e1000747 (2009)
9.
Zeitschriftenartikel
Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.; Shboul, M.; Tham, P.-Y.; Kayserili, H.; Al-Gazali, L. et al.; Shahwan, M.; Brancati, F.; Lee, H.; O'Connor, B. D.; Schmidt-von Kegler, M.; Merriman, B.; Nelson, S. F.; Masri, A.; Alkazaleh, F.; Guerra, D.; Ferrari, P.; Nanda, A.; Rajab, A.; Markie, D.; Gray, M.; Nelson, J.; Grix, A.; Sommer, A.; Savarirayan, R.; Janecke, A. R.; Steichen, E.; Sillence, D.; Haußer, I.; Budde, B.; Nürnberg, G.; Nürnberg, P.; Seemann, P.; Kunkel, D.; Zambruno, G.; Dallapiccola, B.; Schuelke, M.; Robertson, S.; Hamamy, H.; Wollnik, B.; Van Maldergem, L.; Mundlos, S.; Kornak, U.: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 41, S. 1016 - 1021 (2009)
10.
Zeitschriftenartikel
Kuss, P.; Villavicencio-Lorini, P.; Witte, F.; Klose, J.; Albrecht, A. N.; Seemann, P.; Hecht, J.; Mundlos, S.: Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. Journal of Clinical Investigation 119 (1), S. 146 - 156 (2009)
11.
Zeitschriftenartikel
Plöger, F.; Seemann, P.; Schmidt-von Kegler, M.; Lehmann, K.; Seidel, J.; Kjaer, K. W.; Pohl, J.; Mundlos, S.: Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 17 (9), S. 122 - 133 (2008)
12.
Zeitschriftenartikel
Lehmann, K.; Seemann, P.; Silan, F.; Goecke, T. O.; Irgang, M.; Kjaer, K. W.; Kjaergaard, S.; Mahoney, M. J.; Morlot, S.; Reissner, C. et al.; Kerr, B.; Wilkie, A. O. M.; Mundlos, S.: A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. The American Journal of Human Genetics: AJHG 81 (12), S. 388 - 396 (2007)
13.
Zeitschriftenartikel
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), S. 1248 - 1254 (2006)
14.
Zeitschriftenartikel
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)
15.
Zeitschriftenartikel
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)
16.
Zeitschriftenartikel
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)
17.
Zeitschriftenartikel
Lehmann, K.; Seemann, P.; Stricker, S.; Sammar, M.; Meyer, B.; Suering, K.; Majewski, F.; Tinschert, S.; Grzeschik, K.-H. H.; Mueller, D. et al.; Knaus, P.; Nurnberg, P.; Mundlos, S.: Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America 100 (21), S. 12277 - 12282 (2003)
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