检索结果 - Karolina Nemes
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Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis 由 Till Holsten, Susanne Bens, Florian Oyen, Karolina Nemes, Martin Hasselblatt, Uwe Kordes, Reiner Siebert, Michael C. Frühwald, Reinhard Schneppenheim, Ulrich Schüller
出版 2018Revisão -
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Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group 由 Michael C. Frühwald, Karolina Nemes, Heidrun Boztug, Marie-Claire Cornips, D. Gareth Evans, Roula Farah, Stavros Glentis, Mette Jorgensen, K. Katsibardi, Steffen Hirsch, Kirsi Jahnukainen, Iris Kventsel, Kornelius Kerl, Christian P. Kratz, Kristian W. Pajtler, Uwe Kordes, Vita Ridola, Eveline Stutz, Franck Bourdeaut
出版 2021Artigo -
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Improved 6‐year overall survival in <scp>AT</scp>/<scp>RT</scp> – results of the registry study Rhabdoid 2007 由 K. Bartelheim, Karolina Nemes, Angela Seeringer, Kornelius Kerl, Jochen Buechner, Joachim Boos, Norbert Graf, Matthias Dürken, Joachim Gerß, Martin Hasselblatt, Rolf‐Dieter Kortmann, Irene Teichert von Luettichau, Inga Nagel, Randi Nygaard, Florian Oyen, Eduardo Quiroga, Paul‐Gerhardt Schlegel, Irene Schmid, Reinhard Schneppenheim, Reiner Siebert, Palma Solano‐Páez, Beate Timmermann, Monika Warmuth‐Metz, Michael C. Frühwald
出版 2016Artigo -
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ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance 由 Aniello Federico, Christian Thomas, Katarzyna Miśkiewicz, Niklas Woltering, Francesca Zin, Karolina Nemes, Brigitte Bison, Pascal D. Johann, Debra Hawes, Susanne Bens, Uwe Kordes, Steffen Albrecht, Hildegard Dohmen, Péter Hauser, Kathy Keyvani, Frank K.H. van Landeghem, Eva Løbner Lund, David Scheie, Christian Mawrin, Camelia‐Maria Monoranu, Benedicte Parm Ulhøi, Torsten Pietsch, Harald Reinhard, Markus J. Riemenschneider, Astrid Sehested, David Sumerauer, Reiner Siebert, Werner Paulus, Michael C. Frühwald, Marcel Kool, Martin Hasselblatt
出版 2022Artigo -
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Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors 由 Michael C. Frühwald, Martin Hasselblatt, Karolina Nemes, Susanne Bens, Mona Steinbügl, Pascal D. Johann, Kornelius Kerl, Péter Hauser, Eduardo Quiroga, Palma Solano‐Páez, Veronica Biassoni, Maria João Gil‐da‐Costa, Martha Perek-Polnik, Marianne D. van de Wetering, David Sumerauer, Jane Pears, Niklas Stabell, Stefan Holm, Heinz Hengartner, Nicolas U. Gerber, Michael Grotzer, Joachim Boos, Martin Ebinger, Stefan Tippelt, Werner Paulus, Rhoikos Furtwängler, Pablo Hernáiz Driever, Harald Reinhard, Stefan Rutkowski, Paul‐Gerhardt Schlegel, Irene Schmid, Rolf‐Dieter Kortmann, Beate Timmermann, Monika Warmuth‐Metz, Uwe Kordes, Joachim Gerß, Karsten Nysom, Reinhard Schneppenheim, Reiner Siebert, Marcel Kool, Norbert Graf
出版 2019Artigo -
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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group 由 Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn C.J. Jongmans, Beate B. Dörgeloh, Roula Farah, Stavros Glentis, Lisa Golmard, Juliane Hoyer, Kirsi Jahnukainen, Rosalyn Jewell, Axel Karow, K. Katsibardi, Michaela Kuhlen, Andrea Meinhardt, Karolina Nemes, Anna Poluha, Tim Ripperger, Nicolas Waespe, Julian Adlard, Munaza Ahmed, Bernadette Brennan, Tabib Dabir, D. Gareth Evans, Anna Kelsey, Kelly Kohut, A. Kulkarni, Alex Murray, Kai Ren Ong, Anthony Penn, Thomas Semple, Emma R. Woodward, Rachel S. van Leeuwaarde, Annemieke S. Littooij, Johannes H. M. Merks, Åse Krogh Rasmussen, Hanneke M. van Santen, Stephanie E. Smetsers
出版 2021Artigo -
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NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses 由 Karolina Nemes, Susanne Bens, Pascal D. Johann, Mona Steinbügl, Miriam Gruhle, Denis Kachanov, M. V. Teleshova, Péter Hauser, Thorsten Simon, Stephan Tippelt, W. Eberl, Wilhelm Woessmann, Christian P. Kratz, Floor Abbink, Pablo Hernáiz Driever, Matthias Eyrich, David Sumerauer, Till Milde, Harald Reinhard, Alfred Leipold, Marianne D. van de Wetering, Maria João Gil‐da‐Costa, Georg Ebetsberger‐Dachs, Carmen Hernández Marqúes, Nina Bauer, Veronica Biassoni, Clarice Franco Meneses, Stephanie Knirsch, Melchior Lauten, Nicolas U. Gerber, Martin Chada, Kornelius Kerl, Andreas Lemmer, Heidrun Boztug, Michaela Kuhlen, Rhoikos Furtwängler, Uwe Kordes, Reiner Schneppenheim, Christian Vokuhl, Martin Hasselblatt, Thomas Kröncke, Brigitte Bison, Patrick Melchior, Beate Timmermann, Joachim Gerß, Reiner Siebert, Michael C. Frühwald
出版 2022Artigo
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Medicine
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SMARCB1
DNA methylation
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SMARCA4
Atypical teratoid rhabdoid tumor
Bioinformatics
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Exon
Methylation
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Chemistry
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Chromatin
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DNA
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Genetic predisposition
Genetic testing