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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 9
2024
Figueroa, Karla P.; Gross, Caspar 
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
2022
Schmidt, Vanessa F. ORCID: https://orcid.org/0000-0002-7067-2203; Masthoff, Max; Vielsmeier, Veronika; Seebauer, Caroline T.; Cangir, Özlem; Meyer, Lutz; Mükke, Antje; Lang, Werner; Schmid, Axel; Sporns, Peter B.; Brill, Richard; Wohlgemuth, Walter A.; Silva, Natascha Platz Batista da; Seidensticker, Max; Schinner, Regina; Küppers, Julia; Häberle, Beate; Haubner, Frank; Ricke, Jens; Zenker, Martin; Kimm, Melanie A. und Wildgruber, Moritz
(2022):
Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol.
In: Cardiovascular and Interventional Radiology, Bd. 46, Nr. 1: S. 142-151
[PDF, 991kB]
ORCID: https://orcid.org/0000-0002-7067-2203; Masthoff, Max; Vielsmeier, Veronika; Seebauer, Caroline T.; Cangir, Özlem; Meyer, Lutz; Mükke, Antje; Lang, Werner; Schmid, Axel; Sporns, Peter B.; Brill, Richard; Wohlgemuth, Walter A.; Silva, Natascha Platz Batista da; Seidensticker, Max; Schinner, Regina; Küppers, Julia; Häberle, Beate; Haubner, Frank; Ricke, Jens; Zenker, Martin; Kimm, Melanie A. und Wildgruber, Moritz
(2022):
Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol.
In: Cardiovascular and Interventional Radiology, Bd. 46, Nr. 1: S. 142-151
[PDF, 991kB]
Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela
(2022):
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
In: Brain, Bd. 146, Nr. 4: S. 1388-1402
2021
Schmidt, Vanessa Franziska; Wieland, Ilse; Wohlgemuth, Walter A.; Ricke, Jens; Wildgruber, Moritz und Zenker, Martin
(2021):
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.
In: American Journal of Medical Genetics Part A, Bd. 185, Nr. 10: S. 3122-3128
2017
Ripperger, Tim; Bielack, Stefan S.; Borkhardt, Arndt; Brecht, Ines B.; Burkhardt, Birgit; Calaminus, Gabriele; Debatin, Klaus-Michael; Deubzer, Hedwig; Dirksen, Uta; Eckert, Cornelia; Eggert, Angelika; Erlacher, Miriam; Fleischhack, Gudrun; Frühwald, Michael C.; Gnekow, Astrid; Göhring, Gudrun; Graf, Norbert; Hanenberg, Helmut; Hauer, Julia; Hero, Barbara; Hettmer, Simone; Hoff, Katja von; Horstmann, Martin; Hoyer, Juliane; Illig, Thomas; Kaatsch, Peter; Kappler, Roland; Kerl, Kornelius; Klingebiel, Thomas; Kontny, Udo; Kordes, Uwe; Körholz, Dieter; Koscielniak, Ewa; Kramm, Christof M.; Kuhlen, Michaela; Kulozik, Andreas E.; Lamottke, Britta; Leuschner, Ivo; Lohmann, Dietmar R.; Meinhardt, Andrea; Metzler, Markus; Meyer, Lüder H.; Moser, Olga; Nathrath, Michaela; Niemeyer, Charlotte M.; Nustede, Rainer; Pajtler, Kristian W.; Paret, Claudia; Rasche, Mareike; Reinhardt, Dirk; Riess, Olaf; Russo, Alexandra; Rutkowski, Stefan; Schlegelberger, Brigitte; Schneider, Dominik; Schneppenheim, Reinhard; Schrappe, Martin; Schröder, Christopher; Schweinitz, Dietrich von; Simon, Thorsten; Sparber-Sauer, Monika; Spix, Claudia; Stanulla, Martin; Steinemann, Doris; Strahm, Brigitte; Temming, Petra; Thomay, Kathrin; Bueren, Andre O. von; Vorwerk, Peter; Witt, Olaf; Wlodarski, Marcin; Wössmann, Willy; Zenker, Martin; Zimmermann, Stefanie; Pfister, Stefan M. und Kratz, Christian P.
(2017):
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
In: American Journal of Medical Genetics Part A, Bd. 173, Nr. 4: S. 1017-1037
2016
Weber, Stefanie; Büscher, Anja K.; Hagmann, Henning; Liebau, Max C.; Heberle, Christian; Ludwig, Michael; Rath, Sabine; Alberer, Martin; Beissert, Antje; Zenker, Martin; Hoyer, Peter F.; Konrad, Martin; Klein, Hanns-Georg und Hoefele, Julia
(2016):
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
In: Pediatric Nephrology, Bd. 31, Nr. 1: S. 73-81
Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Lüttgen, Sabine; Aydin, Hatip; Deimling, Florian von; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Juliana Ballesta-Martinez, Maria; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerová, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin und Zenker, Martin
(2016):
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
In: Genetics in Medicine, Bd. 18, Nr. 12: S. 1226-1234
2013
Mainberger, Florian; Jung, Nikolai H.; Zenker, Martin; Wahllaender, Ute; Freudenberg, Leonie; Langer, Susanne; Berweck, Steffen; Winkler, Tobias; Straube, Andreas; Heinen, Florian; Granstroem, Sofia; Mautner, Victor-Felix; Lidzba, Karen und Mall, Volker
(2013):
Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1.
In: BMC Neurology
13:131
[PDF, 525kB]
2007
Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Burgt, Ineke van der; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Kock, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Schnakenburg, Christian von; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph und Kutsche, Kerstin
(2007):
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
In: Journal of Medical Genetics, Bd. 44: S. 651-656
[PDF, 1MB]