Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Florian Marsch"'
Autor:
Amelie T. van der Ven, Stefanie Märzheuser, Ferdinand Kosch, Boris Wittekindt, Ekkehart Jenetzky, Matthias Schäfer, Nicole Spychalski, Florian Marsch, Andrea Schmedding, Barbara Gomez, Markus Palta, Nadine Zwink, Katharina Kleine, Eeberhard Schmiedeke, Franziska Degenhardt, Sabine Grasshoff-Derr, Heiko Reutter, Franziska Kause, Johannes Leonhardt, Michael Ludwig, Haitham Bachour, Oliver Johannes Deffaa, Rong Zhang, Jörg Neser, Thomas M. Boemers, Stefanie Heilmann-Heimbach, Martin Lacher, Bernd Hoppe, Benno M. Ure
Publikováno v:
Birth Defects Research. 109:1063-1069
Background The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b359938d87d3ef8df50f5a81513f9492
https://doi.org/10.1002/bdr2.1042
https://doi.org/10.1002/bdr2.1042
Autor:
Erwin Brosens, H. Berna Beverloo, Hitisha P. Zaveri, Michael Ludwig, Martin Lacher, Benno M. Ure, Daryl A. Scott, Robert van der Helm, Alice Hölscher, Elisabeth M. de Jong, Diane Van Opstal, Annelies de Klein, Florian Marsch, Dick Tibboel, Alina C. Hilger, Thomas M. Boemers, Rene M. H. Wijnen, Alice S. Brooks, Stefan Herms, Vera Choinitzki, Hanneke IJsselstijn, Per Hoffmann, Hannie Douben, Johannes Schumacher, Yolande van Bever, Bert H.J. Eussen, Heiko Reutter
Publikováno v:
European Journal of Human Genetics. 24:1715-1723
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714a21c22375d8724e4f5fd59dfe23d7
https://doi.org/10.1038/ejhg.2016.86
https://doi.org/10.1038/ejhg.2016.86
Autor:
Heiko Reutter, Florian Marsch, Janine Altmüller, Rong Zhang, Michael Ludwig, Franziska Kause, Holger Thiele
Publikováno v:
Molecular Medicine Reports.
Branchio‑otic (BO) syndrome is a clinically and genetically heterogeneous disorder that presents with variable branchial arch and otic anomalies. Dominant mutations in the human homologues of the Drosophila eyes absent (EYA1) gene, and the Drosophi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3beb0859ac528a88b7f7a0554fc1ec
https://doi.org/10.3892/mmr.2017.8196
https://doi.org/10.3892/mmr.2017.8196
Autor:
Rong, Zhang, Florian, Marsch, Franziska, Kause, Franziska, Degenhardt, Eeberhard, Schmiedeke, Stefanie, Märzheuser, Bernd, Hoppe, Haitham, Bachour, Thomas M, Boemers, Matthias, Schäfer, Nicole, Spychalski, Jörg, Neser, Johannes, Leonhardt, Ferdinand, Kosch, Benno, Ure, Barbara, Gómez, Martin, Lacher, Oliver J, Deffaa, Markus, Palta, Boris, Wittekindt, Katharina, Kleine, Andrea, Schmedding, Sabine, Grasshoff-Derr, Amelie van der, Ven, Stefanie, Heilmann-Heimbach, Nadine, Zwink, Ekkehart, Jenetzky, Michael, Ludwig, Heiko, Reutter
Publikováno v:
Birth defects research. 109(13)
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::602e2894595fa38922767a4d2321127a
https://pubmed.ncbi.nlm.nih.gov/28605140
https://pubmed.ncbi.nlm.nih.gov/28605140
Autor:
Waltraut M. Merz, Andrea Hofmann, Alina C. Hilger, Florian Marsch, Michael Ludwig, Sophia K. Krutzke, Dietlinde Stienen, Heiko Reutter, Madita M. Schumann, Ulrich Gembruch
Publikováno v:
Journal of Neurodevelopmental Disorders
Background The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75fd4fd8973d8fc67fd33f7976025bdf
https://doi.org/10.1186/s11689-016-9144-y
https://doi.org/10.1186/s11689-016-9144-y
Autor:
Massimo Di Grazia, Markus M. Nöthen, Andrea Hofmann, Heiko Reutter, Carlo M. Marcelis, Rong Zhang, Nicola Migone, Raimund Stein, Wolfgang Rösch, Anne-Karoline Ebert, Catharina von Lowtzow, Florian Marsch, Wouter F.J. Feitz, Markus Draaken, Susanne Moebus, Thomas M. Boemers, Karin Hirsch, Alfredo Brusco, Michael Ludwig
Publikováno v:
BMC Medical Genetics, 17, 1, pp. 35-35
BMC Medical Genetics, 17, 35-35
BMC Medical Genetics
BMC Medical Genetics, 17, 35-35
BMC Medical Genetics
Contains fulltext : 172059.pdf (Publisher’s version ) (Open Access) BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf6c82c21115261b68df2d6e85a16d0
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0299-x
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0299-x
