Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W, Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, Stricker, Sigmar, Pohl, Jens, Plöger, Frank, Staub, Eike, Nickel, Joachim, Sebald, Walter, Knaus, Petra, Mundlos, Stefan
Published in The Journal of clinical investigation (01.09.2005)
Published in The Journal of clinical investigation (01.09.2005)
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Journal Article
Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
Woods, C.G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S.M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Journal Article
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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Journal Article
Time kinetics of bone defect healing in response to BMP-2 and GDF-5 characterised by in vivo biomechanics
Wulsten, D, Glatt, V, Ellinghaus, A, Schmidt-Bleek, K, Petersen, A, Schell, H, Lienau, J, Sebald, W, Plöger, F, Seemann, P, Duda, G N
Published in European cells & materials (11.02.2011)
Published in European cells & materials (11.02.2011)
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Journal Article
GDF5 is associated with a variety of skeletal malformations due to gain or loss of function mutations
Degenkolbe, E, König, J, Zimmer, J, Walther, M, Dathe, K, Mundlos, S, Doelken, S.C, Seemann, P
Published in Bone (New York, N.Y.) (01.12.2012)
Published in Bone (New York, N.Y.) (01.12.2012)
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Journal Article
Vegetative propagation of selected chilean woody ornamental species
Seemann, P, Gutiérrez, T, Kramm, R, Awad, G, Oyanedel, R
Published in Acta horticulturae (01.01.2013)
Published in Acta horticulturae (01.01.2013)
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Journal Article
Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance
Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S
Published in Bone (New York, N.Y.) (01.06.2010)
Published in Bone (New York, N.Y.) (01.06.2010)
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Journal Article
Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan
Published in Proceedings of the National Academy of Sciences - PNAS (14.10.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (14.10.2003)
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Journal Article
Murine models of altered selenium transport highlight bone as a privileged selenium target tissue
Pietschmann, N., Rijntjes, E., Hoeg, A., Schweizer, U., Seemann, P., Schomburg, L.
Published in Perspectives in science (01.02.2015)
Published in Perspectives in science (01.02.2015)
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Journal Article
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
Niedermaier, Michael, Schwabe, Georg C, Fees, Stephan, Helmrich, Anne, Brieske, Norbert, Seemann, Petra, Hecht, Jochen, Seitz, Volkhard, Stricker, Sigmar, Leschik, Gundula, Schrock, Evelin, Selby, Paul B, Mundlos, Stefan
Published in The Journal of clinical investigation (01.04.2005)
Published in The Journal of clinical investigation (01.04.2005)
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Journal Article
Does laser-assisted uvulopalatoplasty work? An objective analysis using pre- and postoperative polysomnographic studies
Seemann, R P, DiToppa, J C, Holm, M A, Hanson, J
Published in Journal of otolaryngology (01.08.2001)
Published in Journal of otolaryngology (01.08.2001)
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Journal Article