Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Eberhard, Schmiedeke"'
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:
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter
Publikováno v:
Biomolecules, Vol 13, Iss 7, p 1117 (2023)
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as we
Externí odkaz:
https://doaj.org/article/74b382b7c34646239735014ee1312e5a
Autor:
Eva E. Amerstorfer, Eberhard Schmiedeke, Inbal Samuk, Cornelius E. J. Sloots, Iris A. L. M. van Rooij, Ekkehart Jenetzky, Paola Midrio, ARM-Net Consortium
Publikováno v:
Children, Vol 9, Iss 6, p 831 (2022)
In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and mil
Externí odkaz:
https://doaj.org/article/a728c8868124435284b1d904b857d8bb
Autor:
Anna Morandi, Maria Fanjul, Barbara Daniela Iacobelli, Inbal Samuk, Dalia Aminoff, Paola Midrio, Ivo de Blaauw, Eberhard Schmiedeke, Alessio Pini Prato, Wout Feitz, Hendrik J. J. van der Steeg, Dario Guido Minoli, Cornelius E. J. Sloots, Francesco Fascetti-Leon, Igor Makedonsky, Araceli Garcia, Pernilla Stenström
Publikováno v:
European Journal of Pediatric Surgery, 32(6), 504-511. Thieme Medical Publishers
European Journal of Pediatric Surgery, 32, 6, pp. 504-511
European Journal of Pediatric Surgery, 32, 504-511
European Journal of Pediatric Surgery, 32, 6, pp. 504-511
European Journal of Pediatric Surgery, 32, 504-511
Introduction To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvem
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:
Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been ide
Externí odkaz:
https://doaj.org/article/8878786ed8f743aab8a58e7142819dab
Autor:
Anne-Karoline Ebert, Nadine Zwink, Heiko M. Reutter, Ekkehart Jenetzky, Raimund Stein, Alice C. Hölscher, Martin Lacher, Caroline Fortmann, Florian Obermayr, Margit Fisch, Kiarasch Mortazawi, Eberhard Schmiedeke, Martin Promm, Karin Hirsch, Frank-Mattias Schäfer, Wolfgang H. Rösch
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Introduction: To evaluate the impact of reconstructive strategies and post-operative management on short- and long-term surgical outcome and complications of classical bladder exstrophy (CBE) patients' comprehensive data of the multicenter German-wid
Externí odkaz:
https://doaj.org/article/dab908e40b6f47fcb11160d15cec8c9b
Autor:
Rong Zhang, Jan Gehlen, Amit Kawalia, Maria-Theodora Melissari, Tikam Chand Dakal, Athira M Menon, Julia Höfele, Korbinian Riedhammer, Lea Waffenschmidt, Julia Fabian, Katinka Breuer, Jeshurun Kalanithy, Alina Christine Hilger, Amit Sharma, Alice Hölscher, Thomas M Boemers, Markus Pauly, Andreas Leutner, Jörg Fuchs, Guido Seitz, Barbara M Ludwikowski, Barbara Gomez, Jochen Hubertus, Andreas Heydweiller, Ralf Kurz, Johannes Leonhardt, Ferdinand Kosch, Stefan Holland-Cunz, Oliver Münsterer, Beno Ure, Eberhard Schmiedeke, Jörg Neser, Petra Degenhardt, Stefanie Märzheuser, Katharina Kleine, Mattias Schäfer, Nicole Spychalski, Oliver J Deffaa, Jan-Hendrik Gosemann, Martin Lacher, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Phillip Grote, Johannes Schumacher, Holger Thiele, Heiko Reutter
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0234246 (2020)
INTRODUCTION:Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among aff
Externí odkaz:
https://doaj.org/article/e65c671b393f40a3941b948d3cfe6051
Autor:
Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)
Abstract Background Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factor
Externí odkaz:
https://doaj.org/article/d9a6a915f3974c23a8a5de96283aadb4
Autor:
Corina E. Thiem, Jil D. Stegmann, Alina C. Hilger, Lea Waffenschmidt, Charlotte Bendixen, Ricarda Köllges, Eberhard Schmiedeke, Frank‐Mattias Schäfer, Martin Lacher, Ferdinand Kosch, Sabine Grasshoff‐Derr, Carmen Kabs, Jörg Neser, Ekkehart Jenetzky, Julia Fazaal, Johannes Schumacher, Julia Hoefele, Kerstin U. Ludwig, Heiko Reutter
Publikováno v:
Birth Defects Research. 114:478-486