CNV analysis in 169 patients with bladder exstrophy-epispadias complex

Por 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
Publicado no BMC Med Genet (2016)

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

Por 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
Publicado no PLoS Genet (2015)

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Por 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.
Publicado em 2011

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Por 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
Publicado em 2013

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic- and non-genetic contributing factors in 441 families from North America and Europe

Por 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
Publicado em 2011

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

Por 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.
Publicado em 2012

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...

Por 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
Publicado em 2014

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Por 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
Publicado em 2013