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Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Luyckx, Ilse; Kumar, Ajay A; Reyniers, Edwin; Dekeyser, Emily; Vanderstraeten, Kathleen; Vandeweyer, Geert; Wünnemann, Florian; Preuss, Christoph; Mazzella, Jean-Michaël; Goudot, Guillaume; Messas, Emmanuel; Albuisson, Juliette; Jeunemaitre, Xavier; Eriksson, Per; Mohamed, Salah A; Kempers, Marlies; Salemink, Simone; Duijnhouwer, Anthonie; Andelfinger, Gregor; Dietz, Harry C; Verstraeten, Aline; Van Laer, Lut; Loeys, Bart L.
Afiliação
  • 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.
  • Mazzella JM; The Jackson Laboratory, Bar Harbor, ME, USA.
  • 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; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France.
  • Mohamed SA; Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
  • Kempers M; Department of Cardiac and Thoracic Vascular Surgery, University Clinic of Schleswig-Holstein, Luebeck, Germany.
  • 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; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Dietz HC; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.
  • Verstraeten A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Van Laer L; Howard Hughes Medical Institute, Baltimore, MD, USA.
  • Loeys BL; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Eur J Hum Genet ; 27(7): 1033-1043, 2019 07.
Article em En | MEDLINE | ID: mdl-30820038
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Valva Aórtica / Aneurisma da Aorta Torácica / Proteínas com Domínio T / Bases de Dados Genéticas / Variações do Número de Cópias de DNA / Cardiopatias Congênitas / Doenças das Valvas Cardíacas Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Valva Aórtica / Aneurisma da Aorta Torácica / Proteínas com Domínio T / Bases de Dados Genéticas / Variações do Número de Cópias de DNA / Cardiopatias Congênitas / Doenças das Valvas Cardíacas Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Reino Unido