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Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki, Saeed; Manickaraj, Ashok K; Mercer, Catherine L; Gerety, Sebastian S; Hitz, Marc-Phillip; Lindsay, Sarah; D'Alessandro, Lisa C A; Swaminathan, G Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Louw, Jacoba; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M; O'Kelly, Ita M; Salmon, Anthony P; Bu'lock, Frances A; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; Fitzpatrick, David F; Wilson, David I; Mital, Seema; Hurles, Matthew E.
Afiliação
  • Al Turki S; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK; Department of Pathology, King Abdulaziz Medical City, P.O. Box 22490, Riyadh 11426, Saudi Arabia.
  • Manickaraj AK; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Mercer CL; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
  • Gerety SS; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Hitz MP; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Lindsay S; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • D'Alessandro LC; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Swaminathan GJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Bentham J; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02459, USA.
  • Arndt AK; Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, and Harvard Stem Cell Institute, Boston, MA 02115, USA; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
  • Low J; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Pediatric Cardiology Unit, University Hospital Leuven, 3000 Leuven, Belgium.
  • Breckpot J; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Gewillig M; Pediatric Cardiology Unit, University Hospital Leuven, 3000 Leuven, Belgium.
  • Thienpont B; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Abdul-Khaliq H; Department of Pediatric Cardiology, Saarland University Hospital, 66421 Homburg, Germany; Competence Network for Congenital Heart Defects.
  • Harnack C; Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max-Delbruck-Center for Molecular Medicine, 13125 Berlin, Germany.
  • Hoff K; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany; Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
  • Kramer HH; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany; Competence Network for Congenital Heart Defects.
  • Schubert S; Competence Network for Congenital Heart Defects; Department of Congenital Heart Disease and Pediatric Cardiology, Deutsches Herzzentrum Berlin, 13353 Berlin, Germany.
  • Siebert R; Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
  • Toka O; Competence Network for Congenital Heart Defects; Department of Pediatric Cardiology, Children's Hospital, Friedrich-Alexander University, 91054 Erlangen, Germany.
  • Cosgrove C; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Watkins H; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Lucassen AM; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
  • O'Kelly IM; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
  • Salmon AP; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
  • Bu'lock FA; East Midlands Congenital Heart Centre, University Hospitals of Leicester NHS Trust, Leicester LE3 9QP, UK.
  • Granados-Riveron J; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK.
  • Setchfield K; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK.
  • Thornborough C; East Midlands Congenital Heart Centre, University Hospitals of Leicester NHS Trust, Leicester LE3 9QP, UK.
  • Brook JD; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK.
  • Mulder B; Heart Center, Academic Medical Center, 1105AZ Amsterdam, the Netherlands.
  • Klaassen S; Competence Network for Congenital Heart Defects; Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max-Delbruck-Center for Molecular Medicine, 13125 Berlin, Germany; Department of Pediatric Cardiology, Charité University Medicine Berlin,13353 Berlin, Germany.
  • Bhattacharya S; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Devriendt K; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Fitzpatrick DF; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Wilson DI; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
  • Mital S; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: seema.mital@sickkids.ca.
  • Hurles ME; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. Electronic address: meh@sanger.ac.uk.
Am J Hum Genet ; 94(4): 574-85, 2014 04 03.
Article em En | MEDLINE | ID: mdl-24702954
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator II de Transcrição COUP / Cardiopatias Congênitas Tipo de estudo: Observational_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator II de Transcrição COUP / Cardiopatias Congênitas Tipo de estudo: Observational_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Arábia Saudita