Výsledky vyhledávání - Karl Hackmann

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  1. 1
    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations Autor Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck, Alain Verloès

    Vydáno 2013
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  2. 2
    Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure

    Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure Autor Shengqiang Yu, Karl Hackmann, Jiangang Gao, Xiaobing He, Klaus Piontek, Miguel A. García-González, Luís F. Menezes, Hangxue Xu, Gregory G. Germino, Jianping Zuo, Feng Qian

    Vydáno 2007
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  3. 3
    Isolation, Characterization, and Differentiation of Progenitor Cells from Human Adult Adrenal Medulla

    Isolation, Characterization, and Differentiation of Progenitor Cells from Human Adult Adrenal Medulla Autor Magda M. Santana, Kuei-Fang Chung, Vladimir Vukićević, Joana Rosmaninho‐Salgado, Waldemar Kanczkowski, Vera Cortez, Karl Hackmann, Carlos Bastos, Alfredo Mota, Evelin Schröck, Stefan R. Bornstein, Cláudia Cavadas, Monika Ehrhart‐Bornstein

    Vydáno 2012
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  4. 4
    Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

    Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas Autor Khalil Abou‐El‐Ardat, Michael Seifert, Kerstin Becker, Sophie Eisenreich, Matthias Lehmann, Karl Hackmann, Andreas Rump, Gerrit A. Meijer, Beatriz Carvalho, Achim Temme, Gabriele Schackert, Evelin Schröck, Dietmar Krex, Barbara Klink

    Vydáno 2016
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  5. 5
    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome Autor Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zunich, Madhuri Hegde, Hudson H. Freeze

    Vydáno 2012
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  6. 6
    Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice

    Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice Autor Ilona Hauber, Helga Hofmann-Sieber, Jan Chemnitz, Danilo Dubrau, Janet Chusainow, Rolf Stucka, Philip Hartjen, Axel Schambach, Patrick Ziegler, Karl Hackmann, Evelin Schröck, Udo Schumacher, Christoph Lindner, Adam Grundhoff, Christopher Baum, Markus G. Manz, Frank Buchholz, Joachim Hauber

    Vydáno 2013
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  7. 7
    Clonal Evolution Including Partial Loss of Human Leukocyte Antigen Genes Favoring Extramedullary Acute Myeloid Leukemia Relapse After Matched Related Allogeneic Hematopoietic Stem Cell Transplantation

    Clonal Evolution Including Partial Loss of Human Leukocyte Antigen Genes Favoring Extramedullary Acute Myeloid Leukemia Relapse After Matched Related Allogeneic Hematopoietic Stem... Autor Friedrich Stölzel, Karl Hackmann, Friederike Kuithan, Brigitte Mohr, Monika Füssel, Uta Oelschlägel, Christian Thiede, Christoph Röllig, Uwe Platzbecker, Johannes Schetelig, Thomas Illmer, Markus Schaich, Barbara Seliger, Arndt Hartmann, Gustavo Baretton, Christian Zietz, Gerhard Ehninger, Evelin Schröck, Martin Bornhäuser

    Vydáno 2012
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  8. 8
    The identification of pathogenic variants in <i>BRCA1/2</i> negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of <i>FANCM</i> pathogenic variants

    The identification of pathogenic variants in <i>BRCA1/2</i> negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of <i>FANCM</i> pathogenic variant... Autor Stephanie Schubert, Jana Lisa van Luttikhuizen, Bernd Auber, Gunnar Schmidt, Winfried Hofmann, Judith Penkert, Colin Davenport, Ursula Hille‐Betz, Lena Wendeburg, Janin Bublitz, Marcel Tauscher, Karl Hackmann, Evelin Schröck, Caroline Scholz, Hannah Wallaschek, Brigitte Schlegelberger, Thomas Illig, Doris Steinemann

    Vydáno 2018
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  9. 9
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Autor Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K. Bijlsma, Arif B. Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Christina Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier

    Vydáno 2011
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  10. 10
    Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy

    Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy Autor Lara Marrone, Ina Poser, Ian Casci, Julia Japtok, Peter Reinhardt, Antje Janosch, Cordula Andree, Hyun O. Lee, Claudia Moebius, Ellen Koerner, Lydia Reinhardt, M.E. Cicardi, Karl Hackmann, Barbara Klink, Angelo Poletti, Simon Alberti, Marc Bickle, Andreas Hermann, Udai Bhan Pandey, Anthony A. Hyman, Jared Sterneckert

    Vydáno 2018
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  11. 11
    Diagnostic value of partial exome sequencing in developmental disorders

    Diagnostic value of partial exome sequencing in developmental disorders Autor Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert, Johannes R. Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Maximilian Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Andreas Rump

    Vydáno 2018
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  12. 12
    Structural basis for OAS2 regulation and its antiviral function

    Structural basis for OAS2 regulation and its antiviral function Autor Veronika Merold, Indra Bekere, Stefanie Kretschmer, Adrian F. Schnell, Dorota Kmieć, Rinu Sivarajan, Katja Lammens, R. Liu, Julia Mergner, Julia Teppert, Maximilian Hirschenberger, Alexander Henrici, Sarah Hammes, Kathrin Buder, Marcus Weitz, Karl Hackmann, Lars M. König, Andreas Pichlmair, Nadine Schwierz, Konstantin M. J. Sparrer, Min Ae Lee‐Kirsch, Carina C. de Oliveira Mann

    Vydáno 2025
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  13. 13
    Association Between Loss-of-Function Mutations Within the <i>FANCM</i> Gene and Early-Onset Familial Breast Cancer

    Association Between Loss-of-Function Mutations Within the <i>FANCM</i> Gene and Early-Onset Familial Breast Cancer Autor Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R. Müller, Anne‐Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann‐Heimbach, André Franke, Wolfgang Lieb, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramı́rez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Vydáno 2016
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  14. 14
    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer Autor Nana Weber‐Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber‐Lassalle, Dieter Niederacher, Julika Borde, Hölger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang‐Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horváth, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Vydáno 2018
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  15. 15
    Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

    Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Bre... Autor Jan Hauke, Judit Horváth, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Hölger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, N Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Rückert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Vydáno 2018
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  16. 16
    Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers

    Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers Autor Arne Jahn, Andreas Rump, Thomas J. Widmann, Christoph Heining, Peter Horak, Barbara Hutter, Nagarajan Paramasivam, Sebastian Uhrig, Laura Gieldon, S. Drukewitz, A. Kübler, Marion Bermudez, Karl Hackmann, Joseph Porrmann, Johannes Maximilian Wagner, M. Arlt, Martin Franke, Jan A. Fischer, Zarah Kowalzyk, Doreen William, V. Weth, S. Oster, Martina Fröhlich, Jennifer Hüllein, Corina Gonzalez, Simon Kreutzfeldt, Andreas Möck, Christoph E. Heilig, Daniel B. Lipka, Lino Möhrmann, Dorothea Hanf, Małgorzata Oleś, Veronica Teleanu, Michael Allgäuer, Leo Ruhnke, Oliver Kutz, Alexander Knurr, Andreas Laßmann, Volker Endris, Olaf Neumann, Roland Penzel, Kristina Beck, Daniela Richter, Ulrike Winter, Stephan Wolf, Katrin Pfütze, Christina Geörg, Bettina Meißburger, Ivo Buchhalter, Marinela Augustin, Walter E. Aulitzky, Peter Hohenberger, Matthias Kroiß, Peter Schirmacher, Richard F. Schlenk, Ulrich Keilholz, Frederick Klauschen, Gunnar Folprecht, Sebastian Bauer, Jens T. Siveke, Christian Brandts, Thomas Kindler, Melanie Boerries, Anna Lena Illert, Nikolas von Bubnoff, Philipp J. Jost, Klaus H. Metzeler, Michael Bitzer, Klaus Schulze‐Osthoff, Christof von Kalle, Benedikt Brors, Albrecht Stenzinger, Wilko Weichert, Daniel Hübschmann, Stefan Fröhling, Hanno Glimm, Evelin Schröck, Barbara Klink

    Vydáno 2022
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  17. 17
    Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

    Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Autor Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lídia Feliubadaló, Cora M. Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso‐Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmañà, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Gabriele Lorenzo Capone, Sandrine M. Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux‐Moncoutier, Pietro Cavalli, Giulia Cini, Edward Clarke, Paola Concolino, Elisa J. Cops, Laura Cortesi, Fergus J. Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Dı́ez, Nina Ditsch, Susan M. Domchek, Véronique Dutrannoy, Diana Eccles, Hans Ehrencrona, Ute Enders, D. Gareth Evans, Chantal Farra, Ulrike Faust, Ute Felbor, Irène Feroce, Miriam Fine, William D. Foulkes, Henrique C.R. Galvão, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne‐Marie Gerdes, Aldo Germani, J Giesecke, Viviana Gismondi, Carolina Gómez, E. Gómez, Sara González, Èlia Grau, Sabine Grill, Eva Groß, Aliana Guerrieri‐Gonzaga, Marine Guillaud‐Bataille, Sara Gutiérrez‐Enríquez, Thomas Haaf, Karl Hackmann, Thomas van Overeem Hansen, Marion Harris, Jan Hauke, T. Heinrich, Heide Hellebrand, Karen Herold, Ellen Honisch, Judit Horváth, Claude Houdayer, Verena Hübbel, Sílvia Iglesias, À. Izquierdo, Paul A. James, Linda A.M. Janssen, Udo Jeschke, Silke Kaulfuß

    Vydáno 2019
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