Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Martin, Promm"'
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:
Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are
Externí odkaz:
https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1
Autor:
Martin Promm, Wolfgang Otto, Florian Weber, Stefanie Götz, Maximilian Burger, Karolina Müller, Peter Rubenwolf, Winfried Neuhuber, Wolfgang H. Roesch
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Successful primary closure of classic bladder exstrophy (BE) is crucial for development of bladder capacity and voided continence. It is universally agreed that an intensive pain management including the use of caudal epidural anesthesia is an essent
Externí odkaz:
https://doaj.org/article/9d7cd4bd40d541ac84b8bb59c5488c11
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:
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:
Aybike Hofmann, Maximilian Haider, Martin Promm, Claudia Neissner, Gregor Badelt, Wolfgang H. Rösch
Publikováno v:
Journal of Pediatric Surgery. 57:303-308
Successful primary closure of bladder exstrophy is of utmost importance for bladder capacity and urinary continence. We evaluated our concept of delayed primary closure that challenges the role of neonatal surgery, pelvic osteotomy, and perioperative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db39bc7f245cfdb03da38d1c50f044ea
https://doi.org/10.1016/j.jpedsurg.2021.12.017
https://doi.org/10.1016/j.jpedsurg.2021.12.017
Autor:
Martin Promm, Wolfgang H. Roesch
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Although enormous effort has been made to further improve the operative techniques worldwide, the management of bladder exstrophy (BE) remains one of the most significant challenges in pediatric urology. Today it is universally agreed that successful
Externí odkaz:
https://doaj.org/article/562f534e79bd44ed96d67fe5c7e0dc56
Publikováno v:
European Journal of Pediatric Surgery. 32:206-209
Introduction Classic bladder exstrophy (BE) is regarded as an isolated malformation without any further anomalies, but some studies have indicated a higher incidence of cardiac anomalies. This cross-sectional study is planned to evaluate the prevalen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d06630f301a023ba6e87b97a297426d3
https://doi.org/10.1055/s-0041-1722904
https://doi.org/10.1055/s-0041-1722904
Publikováno v:
Surgical Case Reports. :1-3
Duplicates of the gastrointestinal tract are rare malformations, which most commonly become symptomatic and are diagnosed during the first two years of life. In this case report, we will recount the story of a 3-year-old patient, who introduced himse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35b7b76e0c21a24d584e62fe1c4b13eb
https://doi.org/10.31487/j.scr.2021.09.02
https://doi.org/10.31487/j.scr.2021.09.02
Autor:
Michael Melter, Birgit Seelbach-Göbel, Wolfgang H. Rösch, Michael Kabesch, Susanne Brandstetter, Christian Apfelbacher, Annika Dittrich, Martin Promm, Sara Fill-Malfertheiner
Publikováno v:
Urol Int
Introduction: The evaluation of the testicular position in newborns is important to ensure timely initiation of therapy. The aim of our study was to assess the reliability of a routinely performed screening examination. Patients and Methods: Newborns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4ed20203e524d5b195a3e2159647ce
https://doi.org/10.1159/000517268
https://doi.org/10.1159/000517268