Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Thomas M. Boemers"'
Autor:
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
Externí odkaz:
https://doaj.org/article/3185cad232344b7081367260f4859843
Autor:
Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)
Summary: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/
Externí odkaz:
https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1
Autor:
Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its
Externí odkaz:
https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc
Autor:
Karoline van de Loo, Stefan Balzer, Colin R. MacKenzie, Thomas M. Boemers, Monika Ortmann, Jörg Schaper, Arndt Borkhardt, Hans-Jürgen Laws, Michaela Kuhlen
Publikováno v:
BMC Infectious Diseases, Vol 18, Iss 1, Pp 1-4 (2018)
Abstract Background Mycobacterium tuberculosis (M. tuberculosis) disease is a generally well-known problem among immunocompromised adults and children. In pediatric oncology, only few cases of M. tuberculosis disease are reported so far. Case present
Externí odkaz:
https://doaj.org/article/d85ccfc8102041b39ca229e518abb63b
Publikováno v:
European Journal of Pediatric Surgery Reports, Vol 09, Iss 01, Pp e61-e64 (2021)
European Journal of Pediatric Surgery Reports
European Journal of Pediatric Surgery Reports
Acute appendicitis is common in children and adolescents. Recently, conservative antibiotic treatment is regarded to be a safe approach to treat uncomplicated appendicitis. It is already established as initial treatment in cases of perforated appendi
Autor:
Julia Fabian, Gabriel C. Dworschak, Lea Waffenschmidt, Luca Schierbaum, Charlotte Bendixen, Stefanie Heilmann-Heimbach, Sugirthan Sivalingam, Andreas Buness, Nicole Schwarzer, Thomas M. Boemers, Eberhard Schmiedeke, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Sandra Weih, Helen Maya Gielen, Stuart Hosie, Carmen Kabs, Markus Palta, Stefanie Märzheuser, Lena Marie Bode, Martin Lacher, Frank-Mattias Schäfer, Maximilian Stehr, Christian Knorr, Benno Ure, Katharina Kleine, Udo Rolle, Marcin Zaniew, Grote Phillip, Nadine Zwink, Ekkehart Jenetzky, Heiko Reutter, Alina C. Hilger
Publikováno v:
European journal of human genetics : EJHG. 31(1)
Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut. Approximately 60% occur as a part of a defined genetic syndrome or within the spectrum of additional congeni
Autor:
Jan, Gehlen, Ann-Sophie, Giel, Ricarda, Köllges, Stephan L, Haas, Rong, Zhang, Jiri, Trcka, Ayse Ö, Sungur, Florian, Renziehausen, Dorothea, Bornholdt, Daphne, Jung, Paul D, Hoyer, Agneta, Nordenskjöld, Dick, Tibboel, John, Vlot, Manon C W, Spaander, Robert, Smigiel, Dariusz, Patkowski, Nel, Roeleveld, Iris Alm, van Rooij, Ivo, de Blaauw, Alice, Hölscher, Marcus, Pauly, Andreas, Leutner, Joerg, Fuchs, Joel, Niethammer, Maria-Theodora, Melissari, Ekkehart, Jenetzky, Nadine, Zwink, Holger, Thiele, Alina Christine, Hilger, Timo, Hess, Jessica, Trautmann, Matthias, Marks, Martin, Baumgarten, Gaby, Bläss, Mikael, Landén, Bengt, Fundin, Cynthia M, Bulik, Tracie, Pennimpede, Michael, Ludwig, Kerstin U, Ludwig, Elisabeth, Mangold, Stefanie, Heilmann-Heimbach, Susanne, Moebus, Bernhard G, Herrmann, Kristina, Alsabeah, Carmen M, Burgos, Helene E, Lilja, Sahar, Azodi, Pernilla, Stenström, Einar, Arnbjörnsson, Barbora, Frybova, Dariusz M, Lebensztejn, Wojciech, Debek, Elwira, Kolodziejczyk, Katarzyna, Kozera, Jaroslaw, Kierkus, Piotr, Kaliciński, Marek, Stefanowicz, Anna, Socha-Banasiak, Michal, Kolejwa, Anna, Piaseczna-Piotrowska, Elzbieta, Czkwianianc, Markus M, Nöthen, Phillip, Grote, Michal, Rygl, Konrad, Reinshagen, Nicole, Spychalski, Barbara, Ludwikowski, Jochen, Hubertus, Andreas, Heydweiller, Benno, Ure, Oliver J, Muensterer, Ophelia, Aubert, Jan-Hendrik, Gosemann, Martin, Lacher, Petra, Degenhardt, Thomas M, Boemers, Anna, Mokrowiecka, Ewa, Małecka-Panas, Markus, Wöhr, Michael, Knapp, Guido, Seitz, Annelies, de Klein, Grzegorz, Oracz, Erwin, Brosens, Heiko, Reutter, Johannes, Schumacher
Publikováno v:
HGG advances. 3(2)
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We u
Publikováno v:
Handchirurgie · Mikrochirurgie · Plastische Chirurgie. 51:356-361
ZusammenfassungEin gleichbleibend hoher Anteil an thermischen Verletzungen im Kindesalter betrifft die Hände von Säuglingen und Kleinkindern, wobei Verbrühungen und Kontaktverbrennungen die häufigsten Unfallursachen darstellen. Während der Groß
Autor:
Nadine Zwink, Anne-Karoline Ebert, Ekkehart Jenetzky, Raimund Stein, Kiarasch Mortazawi, Caroline Fortmann, Thomas M. Boemers, Eberhard Schmiedeke, Margit Fisch, Karin Hirsch, Wolfgang H. Rösch, Heiko Reutter, Florian Obermayr, Martin Lacher, Mattias Schäfer, Volker Eisenschmidt
Publikováno v:
Urology. 123:210-220
To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly oc
Publikováno v:
Monatsschrift Kinderheilkunde.
Die Therapie von Hepatoomphalozelen („Riesenomphalozelen“) stellt eine Herausforderung fur alle behandelnden Fachdisziplinen dar. Eine respiratorische Insuffizienz nach der Geburt ist haufig. Es gibt zwei grundsatzliche chirurgische Behandlungsko