المؤلفون: Milano, A, Vermeer, AMC, Lodder, ER, Barc, J, Verkerk, AO, Van Der Bilt, IAC, Pinto, Y, Christiaans, I, Wilde, AA, Bezzina, CR

المصدر: Cardiovascular Research; Jul2014, Vol. 103 Issue suppl_1, pS60-S60, 1p

مصطلحات موضوعية: BRADYCARDIA, GENETIC mutation, LEFT heart ventricle, CARDIOMYOPATHIES, ELECTROPHYSIOLOGY, PRIMARY care

المؤلفون: Nicastro M, Vermeer AMC, Postema PG, Tadros R, Bowling FZ, Aegisdottir HM, Tragante V, Mach L, Postma AV, Lodder EM, van Duijvenboden K, Zwart R, Beekman L, Wu L, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santomel JL, de Una D, Monserrat L, Miranda AMA, Kanemaru K, Cranley J, van Zeggeren IE, Aronica EMA, Ripolone M, Zanotti S, Sveinbjornsson G, Ivarsdottir EV, Hólm H, Guðbjartsson DF, Skúladóttir ÁT, Stefánsson K, Nadauld L, Knowlton KU, Ostrowski SR, Sørensen E, Vesterager Pedersen OB, Ghouse J, Rand S, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tøring PM, Brusgaard K, Juul TM, Saaby L, Winkel BG, Mogensen J, Fortunato F, Comi GP, Ronchi D, van Tintelen JP, Noseda M, Airola MV, Christiaans I, Wilde AAM, Wilders R, Clur SA, Verkerk AO, Bezzina CR, Lahrouchi N

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 05. Date of Electronic Publication: 2024 Jul 05.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Juárez CK; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Sequeira V; Comprehensive Heart Failure Center, Department of Translational Science, University Clinic Würzburg, Würzburg, Germany., van den Boogaard M; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Veerman CC; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hoetjes NJ; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Poel E; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tanck MWT; Department of Epidemiology and Data Science, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lekanne Deprez RH; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Vermeer AMC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van der Velden J; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Amin AS; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.s.amin@amsterdamumc.nl.

المصدر: Heart rhythm [Heart Rhythm] 2024 Jul; Vol. 21 (7), pp. 1173-1175. Date of Electronic Publication: 2024 Feb 19.

نوع المنشور: Letter; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies*/genetics , Cardiomyopathies*/diagnosis , Tropomyosin*/genetics, Humans ; Troponin/blood

المؤلفون: Jansen M; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart). Electronic address: m.jansen-48@umcutrecht.nl., de Brouwer R; Netherlands Heart Institute, Utrecht, the Netherlands; Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Hassanzada F; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart)., Schoemaker AE; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart)., Schmidt AF; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Department of Cardiology, University Medical Centre Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, University Medical Centre Amsterdam, Amsterdam, the Netherlands., Kooijman-Reumerman MD; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart)., Bracun V; Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Slieker MG; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Pediatric Cardiology, University Medical Centre Utrecht, Utrecht University, the Netherlands., Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart)., Vermeer AMC; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Human Genetics, University Medical Centre Amsterdam Amsterdam, University of Amsterdam, Amsterdam, the Netherlands., Wilde AAM; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Cardiology, University Medical Centre Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, University Medical Centre Amsterdam, Amsterdam, the Netherlands., Amin AS; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Cardiology, University Medical Centre Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, University Medical Centre Amsterdam, Amsterdam, the Netherlands., Lekanne Deprez RH; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Human Genetics, University Medical Centre Amsterdam Amsterdam, University of Amsterdam, Amsterdam, the Netherlands., Herkert JC; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Christiaans I; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., de Boer RA; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands; Department of Cardiology, Thorax Center, Erasmus University Medical Center, Erasmus University Rotterdam, Rotterdam, the Netherlands., Jongbloed JDH; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart)., Asselbergs FW; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart); Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Department of Cardiology, University Medical Centre Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, University Medical Centre Amsterdam, Amsterdam, the Netherlands; Health Data Research UK and Institute of Health Informatics, University College London, London, United Kingdom., Baas AF; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart).

المصدر: JACC. Heart failure [JACC Heart Fail] 2024 Jan; Vol. 12 (1), pp. 134-147. Date of Electronic Publication: 2023 Aug 09.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101598241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-1787 (Electronic) Linking ISSN: 22131779 NLM ISO Abbreviation: JACC Heart Fail Subsets: MEDLINE

مواضيع طبية MeSH: Heart Failure* , Cardiomyopathies*/genetics , Cardiomyopathy, Hypertrophic* , Cardiomyopathy, Dilated*/genetics, Humans ; Male ; Adult ; Child, Preschool ; Child ; Female ; Penetrance ; Cohort Studies ; Prognosis ; Mutation ; Myosin Heavy Chains/genetics ; Cardiac Myosins/genetics

المؤلفون: Pham C; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Andrzejczyk K; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Jurgens SJ; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.).; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Lekanne Deprez R; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Palm KCA; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Vermeer AMC; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Nijman J; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Christiaans I; Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (I.C.)., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands (D.Q.C.M.B.-S.)., van Dessel PFHM; Department of Cardiology, Thorax Center Twente, Medisch Spectrum Twente (MST), Enschede, the Netherlands (P.F.H.M.v.D.)., Beekman L; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Choi SH; Department of Biostatistics, Boston University, MA (S.H.C.)., Lubitz SA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Skoric-Milosavljevic D; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., van den Bersselaar L; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands (L.v.d.B.)., Jansen PR; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).; Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Complex Trait Genetics, the Netherlands (P.R.J.)., Copier JS; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Wilde AAM; Department of Cardiology (A.A.M.W.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Bezzina CR; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Lodder EM; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.).; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Aug; Vol. 16 (4), pp. 328-336. Date of Electronic Publication: 2023 May 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Dilated*/diagnosis , Cardiomyopathy, Dilated*/genetics, Humans ; Retrospective Studies ; Arrhythmias, Cardiac/genetics ; Genetic Testing ; Cardiac Conduction System Disease/genetics ; Protein Serine-Threonine Kinases/genetics

المؤلفون: Marsili L; Clinique de génétique Guy Fontaine, CHU Lille, 59000, Lille, France.; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Lint FHM; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Russo F; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., van Spaendonck-Zwarts KY; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Ader F; Service de Biochimie Métabolique, Hôpital Universitaire Pitié Salpêtrière, APHP-Sorbonne Université-DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et cellulaire, 75651, Paris, France.; INSERM UMRS1166 Equipe 1, ICAN institute (institut de cardiométabolisme et nutrition), 91 Bd de l'hôpital, 75013, Paris, France.; UFR de Pharmacie, Université Paris Cité, 4 av de l'observatoire, 75006, Paris, France., Bichon ML; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Faivre L; Centre de Génétique, FHU TRANSLAD-CHU Dijon Bourgogne, Dijon, France., Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Lekanne Deprez RH; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Cox MGPJ; Department of Cardiology, University Medical Centre Groningen, Groningen, The Netherlands., Wilde AAM; Department of Cardiology, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Mazel B; Centre de Génétique, FHU TRANSLAD-CHU Dijon Bourgogne, Dijon, France., Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Millat G; Unité Fonctionnelle de Cardiogénétique Moléculaire, LBMMS, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677, Bron, France.; Université de Lyon 1, Lyon, France., Nguyen K, Post JG; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Richard P; Service de Biochimie Métabolique, Hôpital Universitaire Pitié Salpêtrière, APHP-Sorbonne Université-DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et cellulaire, 75651, Paris, France.; INSERM UMRS1166 Equipe 1, ICAN institute (institut de cardiométabolisme et nutrition), 91 Bd de l'hôpital, 75013, Paris, France., van de Beek I; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Vermeer AMC; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Boven L; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Jongbloed JDH; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. j.p.vantintelen-3@umcutrecht.nl.

مؤلفون مشاركون: European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart

المصدر: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2023 Aug; Vol. 31 (7-8), pp. 300-307. Date of Electronic Publication: 2023 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bohn Stafleu van Loghum Country of Publication: Netherlands NLM ID: 101095458 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1568-5888 (Print) Linking ISSN: 15685888 NLM ISO Abbreviation: Neth Heart J Subsets: PubMed not MEDLINE

المؤلفون: Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada. rafik.tadros@umontreal.ca.; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands. rafik.tadros@umontreal.ca., Francis C; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Xu X; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Vermeer AMC; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Clinical Genetics, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART)., Harper AR; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Oxford, UK., Huurman R; Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, the Netherlands., Kelu Bisabu K; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., Walsh R; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Hoorntje ET; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Netherlands Heart Institute, Utrecht, the Netherlands., Te Rijdt WP; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Netherlands Heart Institute, Utrecht, the Netherlands., Buchan RJ; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., van Velzen HG; Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Thoraxcenter, Erasmus University Medical Center, Rotterdam, the Netherlands., Vermeulen JM; Department of Psychiatry, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Offerhaus JA; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Bai W; Data Science Institute, Imperial College London, London, UK.; Department of Brain Sciences and UK Dementia Research Institute at Imperial College London, Hammersmith Hospital, Imperial College London, London, UK., de Marvao A; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Lahrouchi N; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Beekman L; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Karper JC; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Kayvanpour E; Institute for Cardiomyopathies, Heidelberg Heart Center, University of Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Berlin, Germany., Pantazis A; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK., Baksi AJ; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Whiffin N; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Mazzarotto F; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Sloane G; Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Suzuki H; Department of Brain Sciences and UK Dementia Research Institute at Imperial College London, Hammersmith Hospital, Imperial College London, London, UK.; Department of Cardiovascular Medicine, Tohoku University Hospital, Seiryo, Aoba, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Seiryo, Aoba, Sendai, Japan., Schneider-Luftman D; The Francis Crick Institute, London, UK.; Department of Epidemiology and Biostatistics, Imperial College London, London, UK., Elliott P; Department of Epidemiology and Biostatistics, Imperial College London, London, UK., Richard P; Service de biochimie métabolique, UF de cardiogénétique et myogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Faculté de Médecine, Sorbonne Université, Paris, France., Ader F; Service de biochimie métabolique, UF de cardiogénétique et myogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Faculté de Médecine, Sorbonne Université, Paris, France.; Faculté de Pharmacie, Université de Paris, Paris, France., Villard E; INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Faculté de Médecine, Sorbonne Université, Paris, France., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.; Klinikum rechts der Isar der TU Muenchen School of Medicine, Institute of Human Genetics, Munich, Germany.; DZHK (German Center for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany., Tanck MWT; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, Amsterdam Public Health (APH), Amsterdam UMC, Amsterdam, the Netherlands., van Tintelen JP; Department of Clinical Genetics, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Thain A; Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., McCarty D; Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Hegele RA; Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Roberts JD; Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Amyot J; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., Dubé MP; Montreal Heart Institute Research Center, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., Cadrin-Tourigny J; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., Giraldeau G; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., L'Allier PL; Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada., Garceau P; 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المصدر: Nature genetics [Nat Genet] 2021 Feb; Vol. 53 (2), pp. 128-134. Date of Electronic Publication: 2021 Jan 25.

نوع المنشور: Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Dilated/*genetics , Cardiomyopathy, Hypertrophic/*genetics, Cardiomyopathy, Dilated/mortality ; Cardiomyopathy, Dilated/physiopathology ; Cardiomyopathy, Hypertrophic/mortality ; Cardiomyopathy, Hypertrophic/physiopathology ; Case-Control Studies ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Heart Ventricles/physiopathology ; Humans ; Kaplan-Meier Estimate ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Ventricular Function, Left/genetics

المؤلفون: Vermeer AMC; Department of Clinical Genetics (A.M.C.V., I.C.).; and Department of Clinical and Experimental Cardiology, Heart Center (A.M.C.V., E.M.L.), Academic Medical Center, Amsterdam, The Netherlands., Christiaans I; Department of Clinical Genetics (A.M.C.V., I.C.)., Lodder EM; and Department of Clinical and Experimental Cardiology, Heart Center (A.M.C.V., E.M.L.), Academic Medical Center, Amsterdam, The Netherlands.

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2018 May; Vol. 11 (5), pp. e002160.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Potassium Channels/*genetics, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/genetics ; Mutation

المؤلفون: Vermeer AMC; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.m.vermeer@amc.uva.nl., Clur SB; Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Blom NA; Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Wilde AAM; Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Christiaans I; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

المصدر: The Journal of pediatrics [J Pediatr] 2017 Sep; Vol. 188, pp. 91-95. Date of Electronic Publication: 2017 Apr 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Penetrance*, Cardiomyopathy, Hypertrophic/*genetics, Adolescent ; Cardiomyopathy, Hypertrophic/epidemiology ; Cardiomyopathy, Hypertrophic/mortality ; Child ; Defibrillators, Implantable ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Mutation ; Phenotype

المؤلفون: Vermeer AMC; a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands.; b Department of Clinical and Experimental Cardiology, Heart Center , Academic Medical Center , Amsterdam , The Netherlands., Janssen A; a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands., Boorsma PC; a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands., Mannens MMAM; a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands., Wilde AAM; b Department of Clinical and Experimental Cardiology, Heart Center , Academic Medical Center , Amsterdam , The Netherlands.; c Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University , Jeddah , Kingdom of Saudi Arabia., Christiaans I; a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands.

المصدر: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2017 Jun; Vol. 24 (2), pp. 87-91. Date of Electronic Publication: 2017 May 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9433802 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-2818 (Electronic) Linking ISSN: 13506129 NLM ISO Abbreviation: Amyloid Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Amyloid Neuropathies, Familial/*genetics , Cardiomyopathy, Hypertrophic/*genetics , Prealbumin/*genetics, Aged ; Aged, 80 and over ; Amino Acid Substitution ; Amyloid Neuropathies, Familial/metabolism ; Amyloid Neuropathies, Familial/pathology ; Cardiomyopathy, Hypertrophic/metabolism ; Cardiomyopathy, Hypertrophic/pathology ; Female ; Humans ; Male ; Middle Aged ; Prealbumin/metabolism

SCR Disease Name: Amyloidosis, Hereditary, Transthyretin-Related