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Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

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Title: Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Authors: Luyckx I; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Kumar AA; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Reyniers E; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dekeyser E; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vanderstraeten K; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vandeweyer G; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada., Preuss C; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.; The Jackson Laboratory, Bar Harbor, ME, USA., Mazzella JM; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Goudot G; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Messas E; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Albuisson J; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Jeunemaitre X; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Eriksson P; Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Mohamed SA; Department of Cardiac and Thoracic Vascular Surgery, University Clinic of Schleswig-Holstein, Luebeck, Germany., Kempers M; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Salemink S; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Duijnhouwer A; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Andelfinger G; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada., Dietz HC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA.; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Verstraeten A; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.
Corporate Authors: MIBAVA Leducq Consortium
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jul; Vol. 27 (7), pp. 1033-1043. Date of Electronic Publication: 2019 Feb 28.
Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
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  Data: <searchLink fieldCode="AU" term="%22Luyckx+I%22">Luyckx I</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Kumar+AA%22">Kumar AA</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Dekeyser+E%22">Dekeyser E</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Vanderstraeten+K%22">Vanderstraeten K</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Vandeweyer+G%22">Vandeweyer G</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Wünnemann+F%22">Wünnemann F</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Preuss+C%22">Preuss C</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.; The Jackson Laboratory, Bar Harbor, ME, USA.<br /><searchLink fieldCode="AU" term="%22Mazzella+JM%22">Mazzella JM</searchLink>; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Goudot+G%22">Goudot G</searchLink>; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Messas+E%22">Messas E</searchLink>; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Albuisson+J%22">Albuisson J</searchLink>; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jeunemaitre+X%22">Jeunemaitre X</searchLink>; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Eriksson+P%22">Eriksson P</searchLink>; Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Mohamed+SA%22">Mohamed SA</searchLink>; Department of Cardiac and Thoracic Vascular Surgery, University Clinic of Schleswig-Holstein, Luebeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kempers+M%22">Kempers M</searchLink>; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Salemink+S%22">Salemink S</searchLink>; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Duijnhouwer+A%22">Duijnhouwer A</searchLink>; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Andelfinger+G%22">Andelfinger G</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Dietz+HC%22">Dietz HC</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA.; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Verstraeten+A%22">Verstraeten A</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Laer+L%22">Van Laer L</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Loeys+BL%22">Loeys BL</searchLink>; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.
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