Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lea Waffenschmidt"'
Autor:
Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. Reutter
Publikováno v:
Cells, Vol 13, Iss 2, p 149 (2024)
Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops. In 2021, Correa and colleagues reported ultrarare compound heterozygo
Externí odkaz:
https://doaj.org/article/d554dbfd13274092870b1fa5adb831ac
Autor:
Loes F. M. van der Zanden, Carlo Maj, Oleg Borisov, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Luca Schierbaum, Sophia Schneider, Lea Waffenschmidt, Lambertus A. L. M. Kiemeney, Liesbeth L. L. de Wall, Stefanie Heilmann, Aybike Hofmann, Jan Gehlen, Johannes Schumacher, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Grazyna Krzemien, Agnieszka Szmigielska, Michiel F. Schreuder, Stefanie Weber, Marcin Zaniew, Nel Roeleveld, Heiko Reutter, Wout F. J. Feitz, Alina C. Hilger
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in 4,000 male live births. Little is known about the genetic background of P
Externí odkaz:
https://doaj.org/article/2b86e5686ed44e1c9b5c76e66ebae75d
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:
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:
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
Autor:
Sophia Schneider, Ricarda Köllges, Jil D. Stegmann, Frederic Thieme, Alina C. Hilger, Lea Waffenschmidt, Julia Fazaal, Jeshurun C. Kalanithy, Annegret Geipel, Brigitte Strizek, Kerstin U. Ludwig, Heiko Reutter, Andreas Müller
Publikováno v:
American Journal of Medical Genetics Part A. 188:1607-1611
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:
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 researchREFERENCES. 114(10)
The acronym VATER/VACTERL association describes the combination of at least three component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (T
Autor:
Sophia, Schneider, Ricarda, Köllges, Jil D, Stegmann, Frederic, Thieme, Alina C, Hilger, Lea, Waffenschmidt, Julia, Fazaal, Jeshurun C, Kalanithy, Annegret, Geipel, Brigitte, Strizek, Kerstin U, Ludwig, Heiko, Reutter, Andreas, Müller
Publikováno v:
American journal of medical genetics. Part A. 188(5)
Autor:
Jeshurun C Kalanithy, Heiko Reutter, Oliver Münsterer, Katharina Kleine, Oliver Johannes Deffaa, Andreas Heydweiller, Beno Ure, Andreas Leutner, Alina C. Hilger, Stefanie Heilmann-Heimbach, Rong Zhang, Maria-Theodora Melissari, Nicole Spychalski, Ralf Kurz, Barbara Ludwikowski, Markus Pauly, Jörg Fuchs, Amit Kawalia, Jochen Hubertus, Eberhard Schmiedeke, Holger Thiele, Korbinian M. Riedhammer, Stefanie Märzheuser, Ferdinand Kosch, Jan Gehlen, Alice Hölscher, Ekkehart Jenetzky, Amit Sharma, Johannes Leonhardt, Julia Fabian, Michael Ludwig, Athira M. Menon, Guido Seitz, Barbara Gomez, Tikam Chand Dakal, Mattias Schäfer, Julia Höfele, Jan-Hendrik Gosemann, Johannes Schumacher, Lea Waffenschmidt, Nadine Zwink, Jörg Neser, Thomas M. Boemers, Phillip Grote, Martin Lacher, Petra Degenhardt, Stefan Holland-Cunz, Katinka Breuer
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0234246 (2020)
PLoS ONE
PLoS ONE
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee5c98f50d324dc8019d0c8ba287fc98
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54935
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54935