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Zeitschriftenartikel
Høyer, Helle 
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
Degenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike; Maya-Miles, Douglas; Uellendahl-Werth, Florian; ElAbd, Hesham; Ruehlemann, Malte C.; Arora, Jatin; Oezer, Onur; Lenning, Ole Bernt; Myhre, Ronny; Vadla, May Sissel; Wacker, Eike M.; Wienbrandt, Lars; Blandino Ortiz, Aaron; de Salazar, Adolfo; Garrido Chercoles, Adolfo; Palom, Adriana; Ruiz, Agustin; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Mantovani, Alberto; Zanella, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Bandera, Alessandra; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Nebel, Almut; Barreira, Ana; Lleo, Ana; Teles, Ana; Kildal, Anders Benjamin; Biondi, Andrea; Caballero-Garralda, Andrea; Ganna, Andrea; Gori, Andrea; Glueck, Andreas; Lind, Andreas; Tanck, Anja; Hinney, Anke; Carreras Nolla, Anna; Fracanzani, Anna Ludovica; Peschuck, Anna; Cavallero, Annalisa; Dyrhol-Riise, Anne Ma; Ruello, Antonella; Julia, Antonio; Muscatello, Antonio; Pesenti, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Schmidt, Axel; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Jensen, Bjoern; Bellinghausen, Carla; Maj, Carlo; Ferrando, Carlos; de la Horra, Carmen; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Scollo, Chiara; Herr, Christian; Spinner, Christoph D.; Gassner, Christoph; Lange, Christoph; Hu, Cinzia; Paccapelo, Cinzia; Lehmann, Clara; Angelini, Claudio; Cappadona, Claudio; Azuure, Clinton; Bianco, Cristiana; Cea, Cristina; Sancho, Cristina; Hoff, Dag Arne Lihaug; Galimberti, Daniela; Prati, Daniele; Haschka, David; Jimenez, David; Pestana, David; Toapanta, David; Muniz-Diaz, Eduardo; Azzolini, Elena; Sandoval, Elena; Binatti, Eleonora; Scarpini, Elio; Helbig, Elisa T.; Casalone, Elisabetta; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Calderon, Enrique J.; Navas, Enrique; Solligard, Erik; Contro, Ernesto; Arana-Arri, Eunate; Aziz, Fatima; Garcia, Federico; Garcia Sanchez, Felix; Ceriotti, Ferruccio; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Kurth, Florian; Blasi, Francesco; Malvestiti, Francesco; Medrano, Francisco J.; Mesonero, Francisco; Rodriguez-Frias, Francisco; Hanses, Frank; Mueller, Fredrik; Hemmrich-Stanisak, Georg; Bellani, Giacomo; Grasselli, Giacomo; Pezzoli, Gianni; Costantino, Giorgio; Albano, Giovanni; Cardamone, Giulia; Bellelli, Giuseppe; Citerio, Giuseppe; Foti, Giuseppe; Lamorte, Giuseppe; Matullo, Giuseppe; Baselli, Guido; Kurihara, Hayato; Neb, Holger; My, Ilaria; Kurth, Ingo; Hernandez, Isabel; Pink, Isabell; de Rojas, Itziar; Galvan-Femenia, Ivan; Holter, Jan Cato; Afset, Jan Egil; Heyckendorf, Jan; Kaessens, Jan; Damas, Jan Kristian; Rybniker, Jan; Altmueller, Janine; Ampuero, Javier; Martin, Javier; Erdmann, Jeanette; Banales, Jesus M.; Badia, Joan Ramon; Dopazo, Joaquin; Schneider, Jochen; Bergan, Jonas; Barretina, Jordi; Walter, Joern; Hernandez Quero, Jose; Goikoetxea, Josune; Delgado, Juan; Guerrero, Juan M.; Fazaal, Julia; Kraft, Julia; Schroeder, Julia; Risnes, Kari; Banasik, Karina; Mueller, Karl Erik; Gaede, Karoline I.; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Bettini, Laura Rachele; Sumoy, Lauro; Sander, Leif Erik; Lippert, Lena J.; Terranova, Leonardo; Nkambule, Lindokuhle; Knopp, Lisa; Gustad, Lise Tuset; Garbarino, Lucia; Santoro, Luigi; Tellez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Riveiro-Barciela, Mar; Berger, Marc M.; Schaefer, Marco; Niemi, Mari E. K.; Gutierrez-Stampa, Maria A.; Carrabba, Maria; Figuera Basso, Maria E.; Valsecchi, Maria Grazia; Hernandez-Tejero, Maria; Vehreschild, Maria J. G. T.; Manunta, Maria; Acosta-Herrera, Marialbert; D'Angio, Mariella; Baldini, Marina; Cazzaniga, Marina; Grimsrud, Marit M.; Cornberg, Markus; Noethen, Markus M.; Marquie, Marta; Castoldi, Massimo; Cordioli, Mattia; Cecconi, Maurizio; D'Amato, Mauro; Augustin, Max; Tomasi, Melissa; Boada, Merce; Dreher, Michael; Seilmaier, Michael J.; Joannidis, Michael; Wittig, Michael; Mazzocco, Michela; Ciccarelli, Michele; Rodriguez-Gandia, Miguel; Bocciolone, Monica; Miozzo, Monica; Imaz Ayo, Natale; Blay, Natalia; Chueca, Natalia; Montano, Nicola; Braun, Nicole; Ludwig, Nicole; Marx, Nikolaus; Martinez, Nilda; Cornely, Oliver A.; Witzke, Oliver; Palmieri, Orazio; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Tentorio, Paolo; Castro, Pedro; Rodrigues, Pedro M.; Espana, Pedro Pablo; Hoffmann, Per; Rosenstiel, Philip; Schommers, Philipp; Suwalski, Phillip; de Pablo, Raul; Ferrer, Ricard; Bals, Robert; Gualtierotti, Roberta; Gallego-Duran, Rocio; Nieto, Rosa; Carpani, Rossana; Morilla, Ruben; Badalamenti, Salvatore; Haider, Sammra; Ciesek, Sandra; May, Sandra; Bombace, Sara; Marsal, Sara; Pigazzini, Sara; Klein, Sebastian; Pelusi, Serena; Wilfling, Sibylle; Bosari, Silvano; Volland, Sonja; Brunak, Soren; Raychaudhuri, Soumya; Schreiber, Stefan; Heilmann-Heimbach, Stefanie; Aliberti, Stefano; Ripke, Stephan; Dudman, Susanne; Wesse, Tanja; Zheng, Tenghao; Bahmer, Thomas; Eggermann, Thomas; Illig, Thomas; Brenner, Thorsten; Pumarola, Tomas; Feldt, Torsten; Folseraas, Trine; Gonzalez Cejudo, Trinidad; Landmesser, Ulf; Protzer, Ulrike; Hehr, Ute; Rimoldi, Valeria; Monzani, Valter; Skogen, Vegard; Keitel, Verena; Kopfnagel, Verena; Friaza, Vicente; Andrade, Victor; Moreno, Victor; Albrecht, Wolfgang; Peter, Wolfgang; Poller, Wolfgang; Farre, Xavier; Yi, Xiaoli; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; Latiano, Anna; Goerg, Siegfried; Bacher, Petra; Koehler, Philipp; Tran, Florian; Zoller, Heinz; Schulte, Eva C.; Heidecker, Bettina; Ludwig, Kerstin U.; Fernandez, Javier; Romero-Gomez, Manuel; Albillos, Agustin; Invernizzi, Pietro; Buti, Maria; Duga, Stefano; Bujanda, Luis; Hov, Johannes R.; Lenz, Tobias L.; Asselta, Rosanna; de Cid, Rafael; Valenti, Luca; Karlsen, Tom H.; Caceres, Mario und Franke, Andre
(2022):
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
In: Human Molecular Genetics, Bd. 31, Nr. 23: S. 3945-3966
Lischka, Annette; Lassuthova, Petra; Çakar, Arman; Record, Christopher J.; Lent, Jonas van; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Hübner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M. und Kurth, Ingo
(2022):
Genetic pain loss disorders.
In: Nature Reviews Disease Primers, Bd. 8, Nr. 1, 41
Wirtz, Theresa H.; Reuken, Philipp A.; Jansen, Christian; Fischer, Petra; Bergmann, Irina; Backhaus, Christina; Emontzpohl, Christoph; Reissing, Johanna; Brandt, Elisa F.; Koenen, M. Teresa; Schneider, Kai M.; Schierwagen, Robert; Brol, Maximilian J.; Chang, Johannes; Zimmermann, Henning W.; Koese-Vogel, Nilay; Eggermann, Thomas; Kurth, Ingo; Stoppe, Christian; Bucala, Richard; Bernhagen, Jürgen; Praktiknjo, Michael; Stallmach, Andreas; Trautwein, Christian; Trebicka, Jonel; Bruns, Tony und Berres, Marie-Luise
(2021):
Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis.
In: Jhep Reports, Bd. 3, Nr. 2, 100221
Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin
(2020):
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
In: Brain, Bd. 143: S. 2437-2453
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Bd. 95, Nr. 24, E3163-E3179
Huang, Jianying; Estacion, Mark; Zhao, Peng; Dib-Hajj, Fadia B.; Schulman, Betsy; Abicht, Angela; Kurth, Ingo; Brockmann, Knut; Waxman, Stephen G. und Dib-Hajj, Sulayman D.
(3. September 2019):
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.
In: Frontiers in Neuroscience, Bd. 13, 918
[PDF, 6MB]
Wirtz, Theresa Hildegard; Fischer, Petra; Backhaus, Christina; Bergmann, Irina; Brandt, Elisa Fabiana; Heinrichs, Daniel; Koenen, Maria Teresa; Schneider, Kai Markus; Eggermann, Thomas; Kurth, Ingo; Stoppe, Christian; Bernhagen, Jürgen; Bruns, Tony; Fischer, Janett; Berg, Thomas; Trautwein, Christian und Berres, Marie-Luise
(2019):
Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis.
In: International Journal of Molecular Sciences, Bd. 20, Nr. 15, 3753