المؤلفون: Peter Lichtner, Thomas Meitinger, Wataru Shimizu, Alison Muir, F. Kyndt, Michael W.T. Tanck, Seiko Ohno, Martina Muggenthaler, Michael J. Ackerman, Vincent Probst, Stephen P. Page, Jean-Jacques Schott, Silvia Castelletti, Hariharan Raju, Jean-Baptiste Gourraud, Joseph Galvin, Taisuke Ishikawa, Eline A. Nannenberg, Dan M. Roden, Doris Škorić-Milosavljević, Kazuhiro Takahashi, Pascal P. McKeown, Federica Dagradi, Lia Crotti, Yanushi D. Wijeyeratne, Julien Barc, Yuka Mizusawa, Peter J. Schwartz, Michael Papadakis, Margherita Torchio, Sanjay Sharma, Velislav N. Batchvarov, Naomasa Makita, Richard Redon, Christian Veltmann, Elijah R. Behr, Takeshi Aiba, Martin Borggrefe, Rafik Tadros, Connie R. Bezzina, J. Martijn Bos, David J. Tester, Isabelle Denjoy, Minoru Horie, Arthur A.M. Wilde

المساهمون: St George's, University of London, Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centro Cardiologico Monzino [Milano], Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS)-Dpt di Scienze Cliniche e di Comunità [Milano] (DISCCO), Università degli Studi di Milano [Milano] (UNIMI)-Università degli Studi di Milano [Milano] (UNIMI), Mayo Clinic [Rochester], Belfast Health and Social Care Trust, Hannover Medical School [Hannover] (MHH), University of Shiga Prefecture, National Cerebral and Cardiovascular Center (NCCC - OSAKA), Osaka University [Osaka], Leeds Teaching Hospitals NHS Trust, University of Dublin, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Helmholtz-Zentrum München (HZM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Iwate Prefectural University [Takizawa], Vanderbilt University School of Medicine [Nashville], University of Heidelberg, Medical Faculty, Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Unité de recherche de l'institut du thorax (ITX-lab), Dpt di Scienze Cliniche e di Comunità [Milano] (DISCCO), Università degli Studi di Milano = University of Milan (UNIMI)-Università degli Studi di Milano = University of Milan (UNIMI)-Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Helmholtz Zentrum München = German Research Center for Environmental Health, HAL-SU, Gestionnaire, Epidemiology and Data Science, APH - Methodology, Graduate School, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development (AR&D), Human Genetics, Cardiology, ACS - Pulmonary hypertension & thrombosis, ACS - Atherosclerosis & ischemic syndromes

المصدر: Circ. Genom. Precis. Med. 13, 599-608 (2020)
Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Circulation: Genomic and Precision Medicine, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Circulation: Genomic and Precision Medicine, 599-608. Lippincott Williams and Wilkins Ltd.
STARTPAGE=599;ENDPAGE=608;ISSN=2574-8300;TITLE=Circulation: Genomic and Precision Medicine
Circulation. Genomic and Precision Medicine

مصطلحات موضوعية: genetics, human, congenital, hereditary, and neonatal diseases and abnormalities, Scn5a gene, phenotype, BIO/18 - GENETICA, 030204 cardiovascular system & hematology, risk score, 03 medical and health sciences, 0302 clinical medicine, Brugada Syndrome, Genetics, Human, Penetrance, Phenotype, Risk Score, Medicine, genetics, Brugada syndrome, 030212 general & internal medicine, human, cardiovascular diseases, Genetic risk, penetrance, Genetics, Framingham Risk Score, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, fungi, General Medicine, Original Articles, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Human genetics, 3. Good health, Brugada ECG Pattern, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, cardiovascular system, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0dd4698c2a81d312e6f868f16dce14Test
https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdfTest

المؤلفون: Charles Antzelevitch, Ahmad S. Amin, Bo Gregers Winkel, Dan M. Roden, Stefan Kääb, Jonathan R. Skinner, Seiko Ohno, Julien Barc, Birgit Stallmeyer, Carla Giustetto, Connie R. Bezzina, Francesco Mazzarotto, Tomas Robyns, Carlo Napolitano, Stellan Mörner, Doris Škorić-Milosavljević, Sven Dittmann, Kenichiro Yamagata, Sonia Van Dooren, Anniek Corveleyn, Carlo de Asmundis, Ramon Brugada, K Usuda, Yuji Tanaka, Sven Zumhagen, Tadashi Nakajima, Johan Saenen, Elijah R. Behr, Hector Barajas-Martinez, Stéphane Bézieau, Masao Yoshinaga, Georgia Sarquella-Brugada, Paul G.A. Volders, Juan R. Gimeno, Lia Crotti, Charlotte Glinge, Andrea Mazzanti, Ingrid P.C. Krapels, Nicola Whiffin, Sebastian Clauss, Yoshiaki Kaneko, James S. Ware, Minoru Horie, Keiko Shimamoto, Isabelle Denjoy, Pieter G. Postema, Christian Krijger, Takeshi Aiba, Masahiko Kurabayashi, Pyotr G. Platonov, Regina Sebastiano, Cristina Gil Ortuño, Annika Rydberg, Roddy Walsh, Michael J. Ackerman, Hideki Itoh, M. Benjamin Shoemaker, Can Hasdemir, Pascale Guicheney, J. Martijn Bos, Frederic Sacher, Takeru Makiyama, Julieta Lazarte, Maarten P. van den Berg, Dominique Babuty, David J. Tester, Silvia Castelletti, Jacques Mansourati, Antoine Leenhardt, Paul A. van der Zwaag, Sanjay Sharma, Elena Arbelo, Candan Celen, Pier D. Lambiase, Maria Christina Kotta, Johannes Steinfurt, Jean-Baptiste Gourraud, Pedro Brugada, Wataru Shimizu, Josep Brugada, Jørgen K. Kanters, Eline A. Nannenberg, Silvia G. Priori, Mary N. Sheppard, Richard Redon, Morten S. Olesen, Jeroen Breckpot, Britt M. Beckmann, Naomasa Makita, Martin Borggrefe, Rafik Tadros, Jean-Jacques Schott, Jacob Tfelt-Hansen, Steven A. Lubitz, Hatice Şahin, Najim Lahrouchi, Michael Papadakis, Daisuke Hazeki, Kenshi Hayashi, Oscar Campuzano, Katja E. Odening, Federica Dagradi, Eric Schulze-Bahr, Boris Rudic, Hiroki Kimoto, Vincent Probst, Jason D. Roberts, Raphaël P. Martins, Bart Loeys, Daniela F. Giachino, F. Kyndt, Kimie Ohkubo, Taisuke Ishikawa, Catarina Lundin, Lut Van Laer, Patrick T. Ellinor, Maria Sabater Molina, Peter J. Schwartz, Annika Winbo

المساهمون: Wellcome Trust, Rosetrees Trust, British Heart Foundation, Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Pontchaillou [Rennes], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Ege Üniversitesi, Cardiovascular Centre (CVC), Nantes Referral Ctr Inherited Car, Cardiology, Graduate School, ACS - Heart failure & arrhythmias, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ACS - Atherosclerosis & ischemic syndromes, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Clinical sciences, Heartrhythmmanagement, Medical Genetics, Reproduction and Genetics, Cardio-vascular diseases

المصدر: Nantes Referral Center for inherited cardiac arrhythmia 2021, ' Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls ', Genetics In Medicine, vol. 23, pp. 47–58 . https://doi.org/10.1038/s41436-020-00946-5Test
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41436-020-⟩
Genetics in Medicine, 47-58. Nature Publishing Group
ISSUE=1;STARTPAGE=47;ENDPAGE=58;ISSN=1098-3600;TITLE=Genetics in Medicine
Genetics in medicine
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5 <http://dx.doi.org/10.1038/s41436-020-00946-5Test>
Genetics in medicine, 23(1), 47-58. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 47-58. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], Nantes Referral Center for inherited cardiac arrhythmia, Disease, Arrhythmias, 030105 genetics & heredity, ACMG/AMP guidelines, Brugada, LQTS, variant interpretation, Medicine, Genetics (clinical), Brugada Syndrome, Brugada syndrome, Genetics, Genetics & Heredity, education.field_of_study, medicine.diagnostic_test, Molecular pathology, 3. Good health, Long QT Syndrome, Medical genetics, Population Control, Cardiology and Cardiovascular Medicine, Cardiac, Medical Genetics, Life Sciences & Biomedicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Long QT syndrome, Population, 610 Medicine & health, BIO/18 - GENETICA, Article, 03 medical and health sciences, Humans, Genetic Testing, cardiovascular diseases, education, Medicinsk genetik, Genetic testing, 0604 Genetics, Science & Technology, business.industry, Genetic heterogeneity, MUTATIONS, ACMG/AMP guideline, Arrhythmias, Cardiac, 1103 Clinical Sciences, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Mutation, 030104 developmental biology, Human medicine, business

وصف الملف: STAMPA; application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193437f5ba4e2e30da09bd570e67f778Test
http://hdl.handle.net/10044/1/82315Test

المؤلفون: Michael J. Ackerman, Sonia Franciosi, Carla Spazzolini, Peter J. Schwartz, Laura Zahavich, Annika Winbo, Anna Joong, Hervé Le Marec, Arja S. Vink, Andrew D. Krahn, Isabelle Denjoy, Mangesh Jadhav, Béatrice Guyomarc’h-Delasalle, Virginie Beauséjour-Ladouceur, Johan M Bos, Nico A. Blom, Alban-Elouen Baruteau, Matthias Lachaud, Claudine Rieubland, Jean Marc Lupoglazoff, Minoru Horie, Yanushi D. Wijeyeratne, Peter C. Ruben, Mena Abdelsayed, Jonathan R. Skinner, Elijah R. Behr, George F. Van Hare, Dominic Abrams, Takeshi Aiba, Jean-Baptiste Gourraud, Arthur A.M. Wilde, Junichi Ozawa, Tak-cheung Yung, Wataru Shimizu, Jacob Tfelt-Hansen, Leonardo Liberman, Lia Crotti, Sit Yee Kwok, Anne M. Dubin, David J. Tester, Shubhayan Sanatani, Vincent Probst, Juan Pablo Kaski, Andrew M. Davis, Federica Dagradi, Elizabeth A. Stephenson, Véronique Fressart, Boris Rudic, Leonie C.H. Wong, F. Kyndt, Jean-Jacques Schott

المساهمون: Baruteau, A, Kyndt, F, Behr, E, Vink, A, Lachaud, M, Joong, A, Schott, J, Horie, M, Denjoy, I, Crotti, L, Shimizu, W, Bos, J, Stephenson, E, Wong, L, Abrams, D, Davis, A, Winbo, A, Dubin, A, Sanatani, S, Liberman, L, Kaski, J, Rudic, B, Kwok, S, Rieubland, C, Tfelt-Hansen, J, Van Hare, G, Guyomarc'h-Delasalle, B, Blom, N, Wijeyeratne, Y, Gourraud, J, Le Marec, H, Ozawa, J, Fressart, V, Lupoglazoff, J, Dagradi, F, Spazzolini, C, Aiba, T, Tester, D, Zahavich, L, Beauséjour-Ladouceur, V, Jadhav, M, Skinner, J, Franciosi, S, Krahn, A, Abdelsayed, M, Ruben, P, Yung, T, Ackerman, M, Wilde, A, Schwartz, P, Probst, V, Amsterdam Cardiovascular Sciences, Graduate School, ACS - Heart failure & arrhythmias, Cardiology, Paediatric Cardiology

المصدر: Baruteau, Alban-Elouen; Kyndt, Florence; Behr, Elijah R; Vink, Arja S; Lachaud, Matthias; Joong, Anna; Schott, Jean-Jacques; Horie, Minoru; Denjoy, Isabelle; Crotti, Lia; Shimizu, Wataru; Bos, Johan M; Stephenson, Elizabeth A; Wong, Leonie; Abrams, Dominic J; Davis, Andrew M; Winbo, Annika; Dubin, Anne M; Sanatani, Shubhayan; Liberman, Leonardo; ... (2018). SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European Heart Journal, 39(31), pp. 2879-2887. Oxford University Press 10.1093/eurheartj/ehy412 <http://dx.doi.org/10.1093/eurheartj/ehy412Test>
European heart journal, 39(31), 2879-2887. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, BIO/18 - GENETICA, 610 Medicine & health, 030204 cardiovascular system & hematology, Lower risk, Asymptomatic, NAV1.5 Voltage-Gated Sodium Channel, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Cardiac Conduction System Disease, Interquartile range, Loss of Function Mutation, Risk Factors, Internal medicine, Genotype, Cardiac conduction, Medicine, Humans, Child, Genetic Association Studies, Brugada syndrome, Brugada Syndrome, Retrospective Studies, business.industry, Age Factors, Infant, Newborn, Infant, Retrospective cohort study, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Brugada syndrome, Genotype–phenotype correlation, Long QT syndrome, Progressive cardiac conduction disorders, SCN5A, Sodium channelopathy, Long QT Syndrome, 030104 developmental biology, Child, Preschool, Gain of Function Mutation, Cohort, Asymptomatic Diseases, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210391609ebb08b7077ab6c32d46d026Test
https://pubmed.ncbi.nlm.nih.gov/30059973Test