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

Publikováno v: European Journal of Human Genetics, 27(7), 1033-1043. Nature Publishing Group
European journal of human genetics
European Journal of Human Genetics, 27, 1033-1043
European Journal of Human Genetics, 27, 7, pp. 1033-1043
European Journal of Human Genetics
European Journal of Human Genetics, 2019, 27, pp.1033-1043. ⟨10.1038/s41431-019-0364-y⟩
Eur J Hum Genet

International audience; Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1-2% of the population. BAV is associated with thoracic aortic aneurysms (TAAs). Deleterious copy number variations (CNVs) were found prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44311eee6c8e75e29926e7a98687a6f7
https://doi.org/10.1038/s41431-019-0364-y

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Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Autor: Gillis E; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Kumar AA; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Luyckx I; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Preuss C; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada., Cannaerts E; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., van de Beek G; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Wieschendorf B; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.; Department of Cardiac and Thoracic Vascular Surgery, University Hospital Schleswig-HolsteinLübeck, Germany., Alaerts M; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Bolar N; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Vandeweyer G; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Meester J; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada., Gould RA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States., Zhurayev R; Department of Clinical Pathology, Lviv National Medical University after Danylo HalytskyLviv, Ukraine., Zerbino D; Department of Clinical Pathology, Lviv National Medical University after Danylo HalytskyLviv, Ukraine., Mohamed SA; Department of Cardiac and Thoracic Vascular Surgery, University Hospital Schleswig-HolsteinLübeck, Germany., Mital S; Cardiovascular Research, SickKids University HospitalToronto, ON, Canada., Mertens L; Cardiovascular Research, SickKids University HospitalToronto, ON, Canada., Björck HM; Cardiovascular Medicine Unit, Department of Medicine, Karolinska InstituteStockholm, Sweden., Franco-Cereceda A; Cardiothoracic Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska InstituteStockholm, Sweden., McCallion AS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States., Van Laer L; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Verhagen JMA; Department of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands., Messas E; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France., Goudot G; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France., Nemcikova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine-Charles University and Motol University HospitalPrague, Czechia., Krebsova A; Institute of Clinical and Experimental MedicinePrague, Czechia., Kempers M; Department of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands., Salemink S; Department of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands., Duijnhouwer T; Department of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands., Jeunemaitre X; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France., Albuisson J; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France., Eriksson P; Cardiovascular Medicine Unit, Department of Medicine, Karolinska InstituteStockholm, Sweden., Andelfinger G; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada., Dietz HC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States.; Howard Hughes Medical InstituteBaltimore, MD, United States., Verstraeten A; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium., Loeys BL; Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.; Department of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands.

Publikováno v: Frontiers in physiology [Front Physiol] 2017 Sep 25; Vol. 8, pp. 730. Date of Electronic Publication: 2017 Sep 25 (Print Publication: 2017).

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