First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Autor: Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)

Summary: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/

Externí odkaz: https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1

First genome-wide association study of esophageal atresia identifies three genetic risk loci at

Autor: Jan, Gehlen, Ann-Sophie, Giel, Ricarda, Köllges, Stephan L, Haas, Rong, Zhang, Jiri, Trcka, Ayse Ö, Sungur, Florian, Renziehausen, Dorothea, Bornholdt, Daphne, Jung, Paul D, Hoyer, Agneta, Nordenskjöld, Dick, Tibboel, John, Vlot, Manon C W, Spaander, Robert, Smigiel, Dariusz, Patkowski, Nel, Roeleveld, Iris Alm, van Rooij, Ivo, de Blaauw, Alice, Hölscher, Marcus, Pauly, Andreas, Leutner, Joerg, Fuchs, Joel, Niethammer, Maria-Theodora, Melissari, Ekkehart, Jenetzky, Nadine, Zwink, Holger, Thiele, Alina Christine, Hilger, Timo, Hess, Jessica, Trautmann, Matthias, Marks, Martin, Baumgarten, Gaby, Bläss, Mikael, Landén, Bengt, Fundin, Cynthia M, Bulik, Tracie, Pennimpede, Michael, Ludwig, Kerstin U, Ludwig, Elisabeth, Mangold, Stefanie, Heilmann-Heimbach, Susanne, Moebus, Bernhard G, Herrmann, Kristina, Alsabeah, Carmen M, Burgos, Helene E, Lilja, Sahar, Azodi, Pernilla, Stenström, Einar, Arnbjörnsson, Barbora, Frybova, Dariusz M, Lebensztejn, Wojciech, Debek, Elwira, Kolodziejczyk, Katarzyna, Kozera, Jaroslaw, Kierkus, Piotr, Kaliciński, Marek, Stefanowicz, Anna, Socha-Banasiak, Michal, Kolejwa, Anna, Piaseczna-Piotrowska, Elzbieta, Czkwianianc, Markus M, Nöthen, Phillip, Grote, Michal, Rygl, Konrad, Reinshagen, Nicole, Spychalski, Barbara, Ludwikowski, Jochen, Hubertus, Andreas, Heydweiller, Benno, Ure, Oliver J, Muensterer, Ophelia, Aubert, Jan-Hendrik, Gosemann, Martin, Lacher, Petra, Degenhardt, Thomas M, Boemers, Anna, Mokrowiecka, Ewa, Małecka-Panas, Markus, Wöhr, Michael, Knapp, Guido, Seitz, Annelies, de Klein, Grzegorz, Oracz, Erwin, Brosens, Heiko, Reutter, Johannes, Schumacher

Publikováno v: HGG advances. 3(2)

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a5dccc661a1832c6adb8bf14a65f5525
https://pubmed.ncbi.nlm.nih.gov/35199045

Anaphylaxis to Iodinated Contrast Material: Nonallergic Hypersensitivity or IgE-Mediated Allergy?

Autor: Gerd Gross, Cornelia S. Seitz, Claudia Schmidt, Eva-B. Bröcker, Axel Trautmann, Jiri Trcka

Publikováno v: American Journal of Roentgenology. 190:666-670

Contrast material is generally well tolerated although approximately 1% of patients who receive low-osmolar nonionic contrast material will develop anaphylaxis symptoms. Because most anaphylactic reactions are mild and nonallergic, clinically mimicki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd97665db3ccf816b385c5e33152429
https://doi.org/10.2214/ajr.07.2872

Frequency and profile of Parkinson's disease prodromi in patients with malignant melanoma

Autor: Johannes Voss, Katrin Riedel, Elise Heilmann, Gerd Gross, Jiri Trcka, Uwe Walter, Reiner Benecke, Susanne G. Schäd, Andrey Zhivov

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 87(3)

Objective The results of register studies suggest an association between Parkinson9s disease (PD) and melanoma. We studied the frequency and profile of early markers of PD in patients with malignant melanoma. Methods 100 participants were enrolled in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::463a0bcab5cd3f6a0a91175c055c5ce4
https://pubmed.ncbi.nlm.nih.gov/25817520

Immunchemotherapie des malignen Melanoms

Autor: Antonius Schwaaf, Eva-B. Bröcker, Jürgen C. Becker, Jiri Trcka, Eckhart Kämpgen

Publikováno v: Der Hautarzt. 49:17-22

Im vorliegenden Beitrag werden die Erfahrungen mit einer Immunchemotherapie beim metastasierten Melanom berichtet, die aus der epifokalen Anwendung des obligaten Kontaktallergens DNCB uber Haut-metastasen sowie einer systemischen Monochemotherapie mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8c3f14a0e92b042c338031823f6046aa
https://doi.org/10.1007/s001050050695