Spinal dysraphism associated with OEIS complex: aspects of diagnosis and treatment

por Städtler, Cora, Cremer, Reinhold, Kellner, Maximilian W, Boemers, Thomas M
Publicado 2010

Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report

por van de Loo, Karoline, Balzer, Stefan, MacKenzie, Colin R., Boemers, Thomas M., Ortmann, Monika, Schaper, Jörg, Borkhardt, Arndt, Laws, Hans-Jürgen, Kuhlen, Michaela
Publicado 2018

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 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 2015

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

por Fabian, Julia, Dworschak, Gabriel C., Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M., Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko, Hilger, Alina C.
Publicado 2022

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

por Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko
Publicado 2020

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

por Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Öznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjöld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Rösch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Bökenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, Reutter, Heiko
Publicado 2020

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

por Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjöld, Agneta, Newman, William, Woolf, Adrian S., Eckstein, Markus, Hilger, Alina C., Dworschak, Gabriel C., Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M., Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J., Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Åkesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Nöthen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael, Reutter, Heiko
Publicado 2022

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

por Gehlen, Jan, Giel, Ann-Sophie, Köllges, Ricarda, Haas, Stephan L., Zhang, Rong, Trcka, Jiri, Sungur, Ayse Ö., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjöld, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C.W., Smigiel, Robert, Patkowski, Dariusz, Roeleveld, Nel, van Rooij, Iris ALM., de Blaauw, Ivo, Hölscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Bläss, Gaby, Landén, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Lilja, Helene E., Azodi, Sahar, Stenström, Pernilla, Arnbjörnsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kaliciński, Piotr, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Nöthen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra, Boemers, Thomas M., Mokrowiecka, Anna, Małecka-Panas, Ewa, Wöhr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin, Reutter, Heiko, Schumacher, Johannes
Publicado 2022