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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester, Josephina A N; Peeters, Silke; Van Den Heuvel, Lotte; Vandeweyer, Geert; Fransen, Erik; Cappella, Elizabeth; Dietz, Harry C; Forbus, Geoffrey; Gelb, Bruce D; Goldmuntz, Elizabeth; Hoskoppal, Arvind; Landstrom, Andrew P; Lee, Teresa; Mital, Seema; Morris, Shaine; Olson, Aaron K; Renard, Marjolijn; Roden, Dan M; Singh, Michael N; Selamet Tierney, Elif Seda; Tretter, Justin T; Van Driest, Sara L; Willing, Marcia; Verstraeten, Aline; Van Laer, Lut; Lacro, Ronald V; Loeys, Bart L.
Afiliação
  • Meester JAN; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Peeters S; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Den Heuvel L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Vandeweyer G; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Fransen E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; StatUa Center for Statistics, University of Antwerp, Antwerp, Belgium.
  • Cappella E; Ann & Robert H. Lurie Children's Hospital, Chicago, IL.
  • Dietz HC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, The Johns Hopkins University, Baltimore, MD; Howard Hughes Medical Institute, Baltimore, MD.
  • Forbus G; Department of Pediatrics, Division of Pediatric Cardiology, Medical University of South Carolina, Charleston, SC.
  • Gelb BD; Departments of Pediatrics and Genetics & Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Hoskoppal A; Departments of Pediatrics and Internal Medicine, University of Utah and Intermountain Healthcare, Salt Lake City, UT.
  • Landstrom AP; Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Lee T; Children's Hospital of New York, New York City, NY.
  • Mital S; Department of Pediatrics, Division of Cardiology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Morris S; Division of Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
  • Olson AK; Department of Pediatrics, Seattle Children's Hospital, Seattle, WA.
  • Renard M; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Roden DM; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
  • Singh MN; Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Selamet Tierney ES; Department of Paediatrics, Stanford University, Palo Alto, CA.
  • Tretter JT; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Van Driest SL; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
  • Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO.
  • Verstraeten A; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Lacro RV; Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Loeys BL; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: bart.loeys@uantwerpen.be.
Genet Med ; 24(5): 1045-1053, 2022 05.
Article em En | MEDLINE | ID: mdl-35058154

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ectopia do Cristalino / Síndrome de Marfan Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ectopia do Cristalino / Síndrome de Marfan Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos