檢索結果 - Andreas Perrot
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Cardiomyopathy Mutations Reveal Variable Region of Myosin Converter as Major Element of Cross-Bridge Compliance 由 Benjamin Seebohm, Faramarz Matinmehr, Jan Köhler, Antonio Francino, F Navarro-López, Andreas Perrot, Cemil Özcelik, William J. McKenna, Bernhard Brenner, Theresia Kraft
出版 2009Artigo -
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Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy 由 Zhyldyz Kabaeva, Andreas Perrot, Bastian Wolter, Rainer Dietz, Nuno Cardim, J. Martins Correia, H. D. Schulte, Almaz Aldashev, М М Миррахимов, Karl Josef Osterziel
出版 2002Artigo -
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Connective Tissue Growth Factor Overexpression in Cardiomyocytes Promotes Cardiac Hypertrophy and Protection against Pressure Overload 由 A. Panek, Maximilian Posch, Natália Alenina, Santhosh Kumar Ghadge, Bettina Erdmann, Elena Popova, Andreas Perrot, Christian Geier, Rainer Dietz Ingo Morano, Michael Bäder, Cemil Özcelik
出版 2009Artigo -
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Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot 由 Marcel Grunert, C. Dorn, Markus Schueler, Ilona Dunkel, Jenny Schlesinger, Siegrun Mebus, Vladimir Alexi‐Meskishvili, Andreas Perrot, Katharina Wassilew, Bernd Timmermann, Roland Hetzer, Felix Berger, Silke Sperling
出版 2014Artigo -
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Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy 由 Snigdha Tripathi, Imke Schultz, Edgar Becker, Judith Montag, Bianca Borchert, Antonio Francino, Francisco Navarro‐López, Andreas Perrot, Cemil Özcelik, Karl‐Josef Osterziel, William J. McKenna, Bernhard Brenner, Theresia Kraft
出版 2011Artigo -
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy 由 Siv Fokstuen, Robert Lyle, Analia Muñoz, Corinne Gehrig, René Lerch, Andreas Perrot, Karl Josef Osterziel, Christian Geier, Maurice Beghetti, François Mach, Juan Sztajzel, Ulrich Sigwart, Stylianos E. Antonarakis, Jean‐Louis Blouin
出版 2008Artigo -
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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy 由 Roberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, Giovanna Lattanzi, Yskert Von Kodolitsch, Andreas Perrot, Elisa Di Pasquale, Laura Papa, Paola Portararo, Marta Columbaro, Alberto Forni, Giuseppe Faggian, Gianluigi Condorelli, Peter N. Robinson
出版 2013Artigo -
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Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects 由 Maximilian Posch, Stephan Waldmüller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade‐Navarro, B. De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, C. Özcelik
出版 2011Artigo -
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A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects 由 Maximilian Posch, Michael Gramlich, Margaret Sunde, Katharina Schmitt, S. H. Y. Lee, Silke Richter, A.H. Kersten, Andreas Perrot, A. Panek, Iman Al Khatib, Georges Nemer, André Mégarbané, Rainer Dietz, Brigitte Stiller, Felix Berger, Richard P. Harvey, C. Özcelik
出版 2009Artigo -
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Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases 由 Philippe Charron, Michael Arad, Eloisa Arbustini, Cristina Basso, Zofia T. Bilińska, Perry Elliott, Tiina Heliö, Andre Keren, William J. McKenna, Lorenzo Monserrat, Sabine Pankuweit, Andreas Perrot, Claudio Rapezzi, Arsen Ristić, Hubert Seggewiß, Irene M. van Langen, Luigi Tavazzi
出版 2010Artigo -
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Mutations in the Human Muscle LIM Protein Gene in Families With Hypertrophic Cardiomyopathy 由 Christian Geier, Andreas Perrot, C. Özcelik, Priska Binner, Damian Counsell, Katrin Hoffmann, Bernhard Pilz, Yvonne Martiniak, Katja Gehmlich, Peter F. M. van der Ven, Dieter O. Fürst, A. Vornwald, Eberhard von Hodenberg, Peter Nürnberg, Thomas Scheffold, Rainer Dietz, Karl Josef Osterziel
出版 2003Artigo -
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Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes 由 Katrin Streckfuß‐Bömeke, Malte Tiburcy, Andrey Fomin, Xiaojing Luo, Wener Li, Claudia Fischer, Cemil Özcelik, Andreas Perrot, Samuel Sossalla, Jan Haas, Ramón Vidal, Sabine Rebs, Sara Khadjeh, Benjamin Meder, Stefan Bonn, Wolfgang A. Linke, Wolfram‐Hubertus Zimmermann, Gerd Hasenfuß, Kaomei Guan
出版 2017Artigo -
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Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy 由 Judith Montag, Kathrin Kowalski, Mirza Makul, Pia Ernstberger, Ante Radocaj, Julia Beck, Edgar Becker, Snigdha Tripathi, Britta Keyser, Christian Mühlfeld, Kirsten Wissel, Andreas Pich, Jolanda van der Velden, Cristobal G. dos Remedios, Andreas Perrot, Antonio Francino, F Navarro-López, Bernhard Brenner, Theresia Kraft
出版 2018Artigo -
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Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy 由 Christian Geier, Katja Gehmlich, Elisabeth Ehler, Sabine Haßfeld, Andreas Perrot, Katrin Hayeß, Nuno Cardim, Katrin Wenzel, Bettina Erdmann, Florian Krackhardt, Maximilian Posch, Karl Josef Osterziel, Angelika Bublak, Herbert Nägele, Thomas Scheffold, Rainer Dietz, Kenneth R. Chien, Simone Spuler, Dieter O. Fürst, Peter Nürnberg, C. Özcelik
出版 2008Artigo -
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Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers 由 Ingrid A.W. van Rijsingen, Eloisa Arbustini, Perry Elliott, Jens Mogensen, J.F. Hermans-van Ast, Anneke J. van der Kooi, J. Peter van Tintelen, Maarten P. van den Berg, Andrea Pilotto, Michele Pasotti, Sharon Jenkins, Camilla Rowland, Uzma Aslam, Arthur A.M. Wilde, Andreas Perrot, Sabine Pankuweit, Aeilko H. Zwinderman, Philippe Charron, Yigal M. Pinto
出版 2012Artigo -
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Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure 由 Stephan Waldmüller, Jeanette Erdmann, Priska Binner, Götz Gelbrich, Sabine Pankuweit, Christian Geier, Bernd Timmermann, Janine Haremza, Andreas Perrot, Steffen Scheer, Rolf Wachter, Norbert Schulze‐Waltrup, Anastassia Dermintzoglou, Jost Schönberger, Wolfgang Zeh, Beate Jurmann, Turgut Brodherr, Jan Börgel, Martin Farr, Hendrik Milting, Wulf Blankenfeldt, Richard Reinhardt, Cemil Özcelik, Karl‐Josef Osterziel, Markus Loeffler, Bernhard Maisch, Vera Regitz‐Zagrosek, Heribert Schunkert, Thomas Scheffold
出版 2011Artigo -
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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing 由 Wei Guo, Sebastian Schäfer, Marion L. Greaser, Michaël Radkë, Martin Liss, Thirupugal Govindarajan, Henrike Maatz, Herbert Schulz, Shijun Li, Amanda M. Parrish, Vita Dauksaite, Padmanabhan Vakeel, Sabine Klaassen, Brenda Gerull, Ludwig Thierfelder, Vera Regitz‐Zagrosek, Timothy A. Hacker, Kurt W. Saupe, G. William Dec, Patrick T. Ellinor, Calum A. MacRae, Bastian Spallek, Robert Fischer, Andreas Perrot, Cemil Özcelik, Kathrin Saar, Norbert Hübner, Michael Gotthardt
出版 2012Artigo
相關主題
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Heart failure
Hypertrophic cardiomyopathy
Missense mutation
Cardiomyopathy
Gene isoform
MYH7
Biochemistry
Cell biology
Cardiology
Dilated cardiomyopathy
Phenotype
Genetic testing
Myocyte
Myosin
Pathology
Sarcomere
Allele
Blood pressure
Gene expression
Genotype
LMNA
Lamin
MYH6
Molecular biology