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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers, Dorien; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, Mark; Liang, David; Mehta, Sarju G; Hague, Jennifer; Verhagen, Judith; van de Laar, Ingrid; Wessels, Marja; Detisch, Yvonne; van Haelst, Mieke; Baas, Annette; Lichtenbelt, Klaske; Braun, Kees; van der Linde, Denise; Roos-Hesselink, Jolien; McGillivray, George; Meester, Josephina; Maystadt, Isabelle; Coucke, Paul; El-Khoury, Elie; Parkash, Sandhya; Diness, Birgitte; Risom, Lotte; Scurr, Ingrid; Hilhorst-Hofstee, Yvonne; Morisaki, Takayuki; Richer, Julie; Désir, Julie; Kempers, Marlies; Rideout, Andrea L; Horne, Gabrielle; Bennett, Chris; Rahikkala, Elisa; Vandeweyer, Geert; Alaerts, Maaike; Verstraeten, Aline; Dietz, Hal; Van Laer, Lut; Loeys, Bart.
Afiliación
  • Schepers D; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Tortora G; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Policlinico Sant'Orsola-Malpighi, Bologna, Italy.
  • Morisaki H; Department of Molecular and Clinical Sciences, Marche Polytechnic University, Ancona, Italy.
  • MacCarrick G; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.
  • Lindsay M; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
  • Liang D; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
  • Mehta SG; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Hague J; Thoracic Aortic Center, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston.
  • Verhagen J; Cardiovascular Medicine, Stanford University Medical Center, Stanford, California.
  • van de Laar I; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
  • Wessels M; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
  • Detisch Y; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • van Haelst M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Baas A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Lichtenbelt K; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Braun K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Linde D; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Roos-Hesselink J; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • McGillivray G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Meester J; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Maystadt I; Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Coucke P; Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • El-Khoury E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Parkash S; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Diness B; Centre de Génétique Humaine, Institut de Pathologie et de Génétique (IPG), Gosselies (Charleroi), Belgium.
  • Risom L; Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium.
  • Scurr I; Department of Diagnostic Cardiology, Clinique St Luc, Bouge (Namur), Belgium.
  • Hilhorst-Hofstee Y; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Morisaki T; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Richer J; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Désir J; Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK.
  • Kempers M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Rideout AL; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.
  • Horne G; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
  • Bennett C; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Rahikkala E; Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, Belgium.
  • Vandeweyer G; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Alaerts M; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Verstraeten A; Department of Medicine (Cardiology) and School of Biomedical Engineering, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Dietz H; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Van Laer L; Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland.
  • Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Hum Mutat ; 39(5): 621-634, 2018 05.
Article en En | MEDLINE | ID: mdl-29392890
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteína Smad2 / Proteína smad3 / Factor de Crecimiento Transformador beta2 / Factor de Crecimiento Transformador beta3 / Síndrome de Loeys-Dietz / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteína Smad2 / Proteína smad3 / Factor de Crecimiento Transformador beta2 / Factor de Crecimiento Transformador beta3 / Síndrome de Loeys-Dietz / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Bélgica