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Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Gigli, Marta; Stolfo, Davide; Graw, Sharon L; Merlo, Marco; Gregorio, Caterina; Nee Chen, Suet; Dal Ferro, Matteo; PaldinoMD, Alessia; De Angelis, Giulia; Brun, Francesca; Jirikowic, Jean; Salcedo, Ernesto E; Turja, Sylvia; Fatkin, Diane; Johnson, Renee; van Tintelen, J Peter; Te Riele, Anneline S J M; Wilde, Arthur A M; Lakdawala, Neal K; Picard, Kermshlise; Miani, Daniela; Muser, Daniele; Maria Severini, Giovanni; Calkins, Hugh; James, Cynthia A; Murray, Brittney; Tichnell, Crystal; Parikh, Victoria N; Ashley, Euan A; Reuter, Chloe; Song, Jiangping; Judge, Daniel P; McKenna, William J; Taylor, Matthew R G; Sinagra, Gianfranco; Mestroni, Luisa.
Afiliação
  • Gigli M; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Stolfo D; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Graw SL; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden (D.S.).
  • Merlo M; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
  • Gregorio C; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Nee Chen S; Biostatistics Unit, Department of Medical Sciences, University of Trieste, Italy (C.G.).
  • Dal Ferro M; MOX-Modeling and Scientific Computing Laboratory, Department of Mathematics, Politecnico di Milano, Milan, Italy (C.G.).
  • PaldinoMD A; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
  • De Angelis G; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Brun F; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Jirikowic J; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Salcedo EE; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
  • Turja S; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
  • Fatkin D; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
  • Johnson R; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
  • van Tintelen JP; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, and St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Australia (D.F., R.J.).
  • Te Riele ASJM; Cardiology Department, St Vincent's Hospital, Sydney, Australia (D.F.).
  • Wilde AAM; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, and St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Australia (D.F., R.J.).
  • Lakdawala NK; Division of Medicine, Department of Genetics and Cardiology, University Medical Center, Utrecht, the Netherlands (J.P.v.T., A.S.J.M.T.R.).
  • Picard K; Netherlands Heart Institute, Utrecht (J.P.v.T., A.S.J.M.T.R.).
  • Miani D; Division of Medicine, Department of Genetics and Cardiology, University Medical Center, Utrecht, the Netherlands (J.P.v.T., A.S.J.M.T.R.).
  • Muser D; Netherlands Heart Institute, Utrecht (J.P.v.T., A.S.J.M.T.R.).
  • Maria Severini G; Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, the Netherlands (A.W.).
  • Calkins H; Brigham and Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., K.P.).
  • James CA; Brigham and Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., K.P.).
  • Murray B; University Hospital of Udine, Italy (D. Miani, D. Muser).
  • Tichnell C; University Hospital of Udine, Italy (D. Miani, D. Muser).
  • Parikh VN; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy (G.M.S.).
  • Ashley EA; Division of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
  • Reuter C; Division of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
  • Song J; Division of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
  • Judge DP; Division of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
  • McKenna WJ; Stanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).
  • Taylor MRG; Stanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).
  • Sinagra G; Stanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).
  • Mestroni L; National Center for Cardiovascular Diseases in Beijing, China (J.S.).
Circulation ; 144(20): 1600-1611, 2021 11 16.
Article em En | MEDLINE | ID: mdl-34587765

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Predisposição Genética para Doença / Filaminas / Cardiomiopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Predisposição Genética para Doença / Filaminas / Cardiomiopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article