Ngā hua rapu - Draaken, Markus

CNV analysis in 169 patients with bladder exstrophy-epispadias complex mā von Lowtzow, Catharina, Hofmann, Andrea, Zhang, Rong, Marsch, Florian, Ebert, Anne-Karoline, Rösch, Wolfgang, Stein, Raimund, Boemers, Thomas M., Hirsch, Karin, Marcelis, Carlo, Feitz, Wouter F. J., Brusco, Alfredo, Migone, Nicola, Di Grazia, Massimo, Moebus, Susanne, Nöthen, Markus M., Reutter, Heiko, Ludwig, Michael, Draaken, Markus

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Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy mā Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U., Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G., Mattheisen, Manuel, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko

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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome mā Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nürnberg, Peter, Woolf, Adrian S.

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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association mā Hilger, Alina, Schramm, Charlotte, Pennimpede, Tracie, Wittler, Lars, Dworschak, Gabriel C, Bartels, Enrika, Engels, Hartmut, Zink, Alexander M, Degenhardt, Franziska, Müller, Annette M, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Wijers, Charlotte HW, Marcelis, Carlo LM, van Rooij, Iris ALM, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus

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Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic- and non-genetic contributing factors in 441 families from North America and Europe mā Reutter, Heiko, Boyadjiev, Simeon A., Gambhir, Lisa, Ebert, Anne-Karoline, Rösch, Wolfgang H., Stein, Raimund, Schröder, Annette, Boemers, Thomas M., Bartels, Enrika, Vogt, Hannes, Utsch, Boris, Müller, Martin, Detlefsen, Birte, Zwink, Nadine, Rogenhofer, Sebastian, Gobet, Rita, Beckers, Goedele M.A, Bökenkamp, Arend, Kajbafzadeh, Abdol-Mohammad, Jaureguizar, Enrique, Draaken, Markus, Lakshmanan, Yegappan, Gearhart, John P., Ludwig, Michael, Nöthen, Markus M., Jenetzky, Ekkehart

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VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis mā Bartels, Enrika, Schulz, Anna C., Mora, Nicole W., Pineda-Alvarez, Daniel E., Wijers, Charlotte H. W., Marcelis, Carlo M., Stressig, Rüdiger, Ritgen, Jochen, Schmiedeke, Eberhard, Mattheisen, Manuel, Draaken, Markus, Hoffmann, Per, Hilger, Alina C., Dworschak, Gabriel C., Baudisch, Friederike, Ludwig, Michael, Bagci, Soyhan, Müller, Andreas, Gembruch, Ulrich, Geipel, Annegret, Berg, Christoph, Bartmann, Peter, Nöthen, Markus M., van Rooij, Iris A.L.M., Solomon, Benjamin D., Reutter, Heiko M.

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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated cla... mā Reutter, Heiko, Draaken, Markus, Pennimpede, Tracie, Wittler, Lars, Brockschmidt, Felix F., Ebert, Anne-Karolin, Bartels, Enrika, Rösch, Wolfgang, Boemers, Thomas M., Hirsch, Karin, Schmiedeke, Eberhard, Meesters, Christian, Becker, Tim, Stein, Raimund, Utsch, Boris, Mangold, Elisabeth, Nordenskjöld, Agneta, Barker, Gillian, Kockum, Christina Clementsson, Zwink, Nadine, Holmdahl, Gundula, Läckgren, Göran, Jenetzky, Ekkehart, Feitz, Wouter F.J., Marcelis, Carlo, Wijers, Charlotte H.W., Van Rooij, Iris A.L.M., Gearhart, John P., Herrmann, Bernhard G., Ludwig, Michael, Boyadjiev, Simeon A., Nöthen, Markus M., Mattheisen, Manuel

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Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association mā Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm

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