Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Markus Draaken"'
Autor:
Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna M Schmidt, Anne-Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M Boemers, Elisabeth Mangold, Stefanie Heilmann, Kerstin U Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G Herrmann, Manuel Mattheisen, Markus M Nöthen, Michael Ludwig, Heiko Reutter
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005024 (2015)
The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form o
Externí odkaz:
https://doaj.org/article/3fe412125c0f47a8abc61016f03bed28
Autor:
Jessica Becker, Kerstin U. Ludwig, Gül Schmidt, Martin Scheer, Ann-Kathrin Hoebel, Lina Gölz, Andrea Hofmann, Alexander M. Zink, Elisabeth Mangold, Anne C. Böhmer, Markus Draaken, Markus Martini, Franziska Degenhardt, Alexander Hemprich, Michael Knapp, Johanna Klamt
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 106:767-772
Background Nonsyndromic cleft with or without cleft palate (nsCL/P) is a common birth defect. Although genome-wide association studies (GWAS) have identified numerous risk variants, a considerable fraction of the genetic heritability remains unknown.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90290b2681b00ea80310ffad891f25cc
https://doi.org/10.1002/bdra.23539
https://doi.org/10.1002/bdra.23539
Autor:
Markus Draaken, Daniel Nilsson, Anna Lindstrand, Vladana Vukojević, Izabella Baranowska Körberg, Johanna Lundin, Gundela Holmdahl, Agneta Nordenskjöld, Christina Clementson Kockum, Michael Ludwig, Gillian Barker, Heiko Reutter, Jia Cao, Ellen Markljung, Wolfgang Hofmeister
Publikováno v:
Human Molecular Genetics. 24:5069-5078
Bladder exstrophy, a severe congenital urological malformation when a child is born with an open urinary bladder, is the most common form of bladder exstrophy-epispadias complex (BEEC) with an incidence of 1:30.000 children of Caucasian descent. Rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc95f33353fcb4b8c4ddb8c0f0dad616
https://doi.org/10.1093/hmg/ddv225
https://doi.org/10.1093/hmg/ddv225
Autor:
Isabel Spier, Verena Steinke, Sandra M. Pasternack, Stefan Aretz, Elke Holinski-Feder, Per Hoffmann, Holger Fröhlich, Janine Altmüller, Stefan Herms, Stefanie Heilmann, Andrea Hofmann, Alberto Perez-Bouza, Stefanie Vogt, Markus M. Nöthen, Dietlinde Stienen, Hartmut Engels, Stefanie Holzapfel, Holger Thiele, Franziska Degenhardt, Andreas Laner, Kathleen Keppler, Sukanya Horpaopan, Ronja Adam, Susanne Moebus, Markus Draaken, Siegfried Uhlhaas, Katrin Kayser, Alexander M. Zink
Publikováno v:
International Journal of Cancer. 136:E578-E589
To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV) in a large, well characterized APC and MUTYH mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49bf8e4b22e83e5de05d2fc983062434
https://doi.org/10.1002/ijc.29215
https://doi.org/10.1002/ijc.29215
Autor:
Ekkehart Jenetzky, Stefanie Märzheuser, Eberhard Schmiedeke, Markus M. Nöthen, Dominik Schmidt, Stefan Holland-Cunz, Nadine Zwink, Martin Lacher, Heiko Reutter, Sabine Grasshoff-Derr, Michael Ludwig, Alina C. Hilger, Charlotte Schramm, Gabriel C. Dworschak, Markus Draaken, Enrika Bartels
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 103:235-242
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3ab0542d9636f34f8c8125a5e859ac3
https://doi.org/10.1002/bdra.23321
https://doi.org/10.1002/bdra.23321
Autor:
Thomas M. Boemers, Sadaf S. Mughal, Anke Rißmann, Joachim Woelfle, Gabriel C. Dworschak, Stefanie Märzheuser, Markus Draaken, Markus M. Nöthen, Claudia Zeidler, Sabine Grasshoff-Derr, Alina C. Hilger, Eberhard Schmiedeke, Enrika Bartels, Nadine Zwink, Ekkehart Jenetzky, Heiko Reutter, Greta Große, Christina Kujath, Johannes Leonhardt, Michael Ludwig, Mattias Schäfer, Stefan Holland-Cunz, Dominik Schmidt, Martin Lacher, Kathleen Keppler, Markus Palta
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 100:750-759
Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82a5151a40102c34df6e1dbc7157ee94
https://doi.org/10.1002/bdra.23278
https://doi.org/10.1002/bdra.23278
Autor:
Nadine Zwink, Nel Roeleveld, Charlotte H. W. Wijers, Heiko Reutter, Michael Ludwig, Han G. Brunner, Ekkehart Jenetzky, Carlo Marcelis, Cornelius E. J. Sloots, Marc H. W. A. Wijnen, Markus Draaken, Paul M. A. Broens, Ivo de Blaauw, Alice S. Brooks, Loes F.M. van der Zanden, Robert M.W. Hofstra, Iris A.L.M. van Rooij
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 100:483-492
Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de2262f36cb1e56384e94c7e27366d54
https://doi.org/10.1002/bdra.23256
https://doi.org/10.1002/bdra.23256
Autor:
Markus M. Nöthen, Tracie Pennimpede, Gundela Holmdahl, Lars Wittler, Michael Ludwig, Simeon A. Boyadjiev, Heiko Reutter, John P. Gearhart, Martin Kerick, Yegappan Lakshmanan, Catharina von Lowtzow, Markus Draaken, Heiner Kuhl, Friederike Baudisch, Stefan Herms, Bernd Timmermann, Anne Karoline Ebert, Raimund Stein, Bernhard G. Herrmann, Enrika Bartels, Thomas M. Boemers, Christina Clementsson Kockum, Wolfgang Rösch, Agnetha Nordenskjöld, Judith Proske, Göran Läckgren
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 100:512-517
Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b88dc8bde4d4f0d26217eda5dff10b90
https://doi.org/10.1002/bdra.23249
https://doi.org/10.1002/bdra.23249
Autor:
Mei Wang, Michael Ludwig, Wolfgang Rösch, Yegappan Lakshmanan, Simeon A. Boyadjiev, Markus Draaken, Anne K. Ebert, Garima Yagnik, Heiko Reutter, John P. Gearhart, Lihong Qi, Manuel Mattheisen
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 97:759-763
BACKGROUND Bladder-exstrophy-epispadias complex (BEEC) is a severe congenital anomaly that represents a spectrum of urological abnormalities where parts or all of the distal urinary tract fail to close during development. Multiple lines of evidence s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab312c8b95e25d4b1987fda4ab40821c
https://doi.org/10.1002/bdra.23161
https://doi.org/10.1002/bdra.23161
Autor:
Heiko Reutter, Gabriel C. Dworschak, Markus Draaken, Alina C. Hilger, Mark Born, Michael Ludwig
Publikováno v:
International Journal of Molecular Medicine. 32:174-178
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia usually presenting in early childhood with variable phenotypic features and course. Clinical manifestations comprise aggressive osteolysis of the carp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::665d6964105a94e9eade6ac103c3c136
https://doi.org/10.3892/ijmm.2013.1373
https://doi.org/10.3892/ijmm.2013.1373