Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN
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, Pohl, Jens, Schmidt-von Kegler, Mareen, Walther, Maria, Gassner, Ingmar, Rusu, Cristina, Janecke, Andreas R, Dathe, Katarina, Mundlos, Stefan
Published in PLoS genetics (01.11.2009)
Published in PLoS genetics (01.11.2009)
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Limb specific Acvr1‐knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)
Hildebrand, Laura, Schmidt‐von Kegler, Mareen, Walther, Maria, Seemann, Petra, Stange, Katja
Published in Developmental dynamics (01.05.2019)
Published in Developmental dynamics (01.05.2019)
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Mutations in PYCR1 cause cutis laxa with progeroid features
Alkazaleh, Fawaz, Haußer, Ingrid, Nanda, Arti, Sillence, David, Reversade, Bruno, Ferrari, Paola, Rajab, Anna, Dallapiccola, Bruno, Kornak, Uwe, Mundlos, Stefan, Nürnberg, Gudrun, Budde, Birgit, Gray, Mary, Nürnberg, Peter, Fischer, Björn, Seemann, Petra, Van Maldergem, Lionel, Escande-Beillard, Nathalie, Savarirayan, Ravi, Li, Yun, Hamamy, Hanan, Schuelke, Markus, Chng, Serene C, Lee, Hane, Tham, Puay-Yoke, Markie, David, Kayserili, Hülya, Merriman, Barry, Guerra, Deanna, Shboul, Mohammad, Nelson, John, Shahwan, Monzer, Masri, Amira, Nelson, Stanley F, Dimopoulou, Aikaterini, Wollnik, Bernd, Al-Gazali, Lihadh, O'Connor, Brian D, Janecke, Andreas R, Zambruno, Giovanna, Robertson, Stephen, Sommer, Annemarie, Kunkel, Désirée, Kegler, Mareen Schmidt-von, Steichen, Elisabeth, Brancati, Francesco, Grix, Arthur
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
Ibrahim, Daniel M, Hansen, Peter, Rödelsperger, Christian, Stiege, Asita C, Doelken, Sandra C, Horn, Denise, Jäger, Marten, Janetzki, Catrin, Krawitz, Peter, Leschik, Gundula, Wagner, Florian, Scheuer, Till, Schmidt-von Kegler, Mareen, Seemann, Petra, Timmermann, Bernd, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen
Published in Genome research (01.12.2013)
Published in Genome research (01.12.2013)
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Brachydactyly type A2 associated with a defect in proGDF5 processing
Plöger, Frank, Seemann, Petra, Schmidt-von Kegler, Mareen, Lehmann, Katarina, Seidel, Jörg, Kjaer, Klaus W., Pohl, Jens, Mundlos, Stefan
Published in Human molecular genetics (01.05.2008)
Published in Human molecular genetics (01.05.2008)
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Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
Stange, Katja, Ott, Claus-Eric, Schmidt-von Kegler, Mareen, Gillesen-Kaesbach, Gabriele, Mundlos, Stefan, Dathe, Katarina, Seemann, Petra
Published in Journal of human genetics (01.08.2015)
Published in Journal of human genetics (01.08.2015)
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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
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, Kegler, Mareen Schmidt-von, 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
Published in Nature genetics (01.02.2022)
Published in Nature genetics (01.02.2022)
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Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN: e1000747
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, Pohl, Jens, Kegler, Mareen Schmidt-von, Walther, Maria, Gassner, Ingmar, Rusu, Cristina, Janecke, Andreas R, Dathe, Katarina, Mundlos, Stefan
Published in PLoS genetics (01.11.2009)
Published in PLoS genetics (01.11.2009)
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Nature Genetics
Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Bjorn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hulya, 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, Nurnberg, Gudrun, Nurnberg, Peter, Seemann, Petra, Kunkel, Desiree, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe
Published in Nature genetics (2009)
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Published in Nature genetics (2009)
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