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Entries: 1-9  
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Mutations in GDF5 reveal a key residue mediating BMP
inhibition by NOGGIN
Authors: Seemann, Petra; Brehm, Anja; König, Jana; Reissner, Carsten; Stricker, Sigmar; Kuss, Pia; Haupt, Julia; Renninger, Stephanie; Nickel, Joachim; Sebald, Walter; Groppe, Jay C.; Plöger, Frank; Schmidt-von Kegler, Mareen; Walther, Maria; Gassner, Ingmar; Rusu, Cristina; Janecke, Andreas R.; Dathe, Katarina; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-11-26
Title of Journal: PLoS Genetics
Volume: 5
Issue / Number: 11
Start Page: e1000747
End Page: e1000747
Document Type: Article
ID: 456439.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis
Authors: Kuss, Pia; Villavicencio-Lorini, Pablo; Witte, Florian; Klose, Joachim; Albrecht, Andrea N.; Seemann, Petra; Hecht, Jochen; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-01-05
Title of Journal: Journal of Clinical Investigation
Volume: 119
Issue / Number: 1
Start Page: 146
End Page: 156
Document Type: Article
ID: 448428.0
Brachydactyly type A2 associated with a defect in proGDF5 processing
Authors: Plöger, Frank; Seemann, Petra; Schmidt-von Kegler, Mareen; Lehmann, Katarina; Seidel, Jörg; Kjaer, Klaus W.; Pohl, Jens; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01-18
Title of Journal: Human Molecular Genetics
Volume: 17
Issue / Number: 9
Start Page: 122
End Page: 133
Document Type: Article
ID: 411663.0
 
Full text / Content available
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Authors: Lehmann, K.; Seemann, Petra; Silan, F.; Goecke, T. O.; Irgang, Markus; Kjaer, K. W.; Kjaergaard, S.; Mahoney, M. J.; Morlot, S.; Reissner, C.; Kerr, B.; Wilkie, A. O. M.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-08-01
Title of Journal: The American Journal of Human Genetics : AJHG
Volume: 81
Issue / Number: 12
Start Page: 388
End Page: 396
Document Type: Article
ID: 334903.0
 
Full text / Content available
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Boergermann, Jan; Morin, Gilles; Reif, Silke; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2006-12
Title of Journal: European Journal of Human Genetics
Volume: 14
Issue / Number: 12
Start Page: 1248
End Page: 1254
Document Type: Article
ID: 313090.0
 
Full text / Content available
GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
Authors: Dawson, Katherine; Seemann, Petra; Sebald, Eiman; King, Lily; Edwards, Matthew; Williams III, John; Mundlos, Stefan; Krakow, Deborah
Date of Publication (YYYY-MM-DD): 2006-04
Title of Journal: American Journal of Human Genetics (Chicago, IL)
Volume: 78
Issue / Number: 4
Start Page: 708
End Page: 712
Document Type: Article
ID: 313082.0
 
Full text / Content available
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
Authors: Seemann, Petra; Schwappacher, Raphaela; Kjaer, Klaus W.; Krakow, Deborah; Lehmann, Katarina; Dawson, Katherine; Stricker, Sigmar; Pohl, Jens; Ploeger, Frank; Staub, Eike; Nickel, Joachim; Sebald, Walter; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2005-06-21
Title of Journal: Journal of Clinical Investigation
Volume: 115
Issue / Number: 9
Start Page: 2373
End Page: 2381
Document Type: Article
ID: 268509.0
 
Full text / Content available
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Stricker, Sigmar; Sammar, Marai; Meyer, Birgit; Suering, Katrin; Majewski, Frank; Tinschert, Sigrid; Grzeschik, Karl-Heinz H.; Mueller, Dietmar; Knaus, Petra; Nurnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2003-10-14
Title of Journal: Proceedings of the National Academy of Sciences of the United States of America
Volume: 100
Issue / Number: 21
Start Page: 12277
End Page: 12282
Document Type: Article
ID: 174918.0
Entries: 1-9  
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