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1دورية أكاديمية
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المؤلفون: Romano, Minna Moreira Dias
المصدر: Arquivos Brasileiros de Cardiologia, Volume: 118, Issue: 5, Pages: 873-874, Published: 13 MAY 2022
مصطلحات موضوعية: Gradiente, Técnicas de Ablação/métodos, Cardiomiopatia Hipertrófica Obstrutiva/genética, Ablation Techniques/methods, Miectomy, Ablação por Cateter/métodos, Miectomia, Ablação Septal Alcoólica/métodos, Gradient, Alcohol Septal Ablation/methods, Cardiomyopathy, Hypertrophic/genetics
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______608::6ce50c52489e728d7414f5e5429b3fe8
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2022000500873&lng=en&tlng=en -
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المؤلفون: Martijn Wehrens, Anne E. de Leeuw, Maya Wright-Clark, Joep E.C. Eding, Cornelis J. Boogerd, Bas Molenaar, Petra H. van der Kraak, Diederik W.D. Kuster, Jolanda van der Velden, Michelle Michels, Aryan Vink, Eva van Rooij
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Physiology, ACS - Heart failure & arrhythmias, Cardiology, Radiology & Nuclear Medicine
المصدر: Cell Reports, 39(6). Cell Press
Cell Reports, 39(6):110809. Cell Press
Wehrens, M, de Leeuw, A E, Wright-Clark, M, Eding, J E C, Boogerd, C J, Molenaar, B, van der Kraak, P H, Kuster, D W D, van der Velden, J, Michels, M, Vink, A & van Rooij, E 2022, ' Single-cell transcriptomics provides insights into hypertrophic cardiomyopathy ', Cell Reports, vol. 39, no. 6, 110809 . https://doi.org/10.1016/j.celrep.2022.110809مصطلحات موضوعية: Heart Defects, Congenital, Sarcomeres, Hypertrophic/genetics, Cardiomyopathy, Hypertrophy, Cardiomyopathy, Hypertrophic, Transcriptome/genetics, General Biochemistry, Genetics and Molecular Biology, Congenital, SDG 3 - Good Health and Well-being, cardiovascular system, Humans, cardiovascular diseases, Transcriptome, Heart Defects, Cardiomyopathy, Hypertrophic/genetics
وصف الملف: application/pdf
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المؤلفون: Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga
المصدر: European journal of medical genetics, vol. 65, no. 12, pp. 104627
مصطلحات موضوعية: Adult, Humans, Infant, Newborn, Switzerland, Carrier Proteins/genetics, Cardiomyopathy, Hypertrophic/genetics, Mutation, Heterozygote, Cytoskeletal Proteins/genetics, Founder variant, MYBPC3, hypertrophic cardiomyopathy, Phasing, Cytoskeletal Proteins, Genetics, General Medicine, Cardiomyopathy, Hypertrophic, Carrier Proteins, Genetics (clinical)
وصف الملف: application/pdf
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5كتاب
المؤلفون: Melendez, Elliot.
مصطلحات موضوعية: Cardiomyopathy, Hypertrophic -- genetics., Myocardium -- Diseases -- Genetic aspects.
Degree: Thesis (M.D. with honors)--Harvard Medical School, 1999.
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المؤلفون: Tucker, N. R., Chaffin, M., Bedi, K. C., Papangeli, I., Akkad, A. -D., Arduini, A., Hayat, S., Eraslan, G., Muus, C., Bhattacharyya, R. P., Stegmann, C. M., HCA Lung network, Zerti, Darin, Margulies, K. B., Ellinor, P. T.
المساهمون: Centre National de la Recherche Scientifique (CNRS), Université Côte d'Azur (UCA), Institut de pharmacologie moléculaire et cellulaire (IPMC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Groningen Research Institute for Asthma and COPD (GRIAC)
المصدر: Circulation
Circulation, American Heart Association, 2020, ⟨10.1161/CIRCULATIONAHA.120.047911⟩
medRxiv
Circulation, 142(7), 708-710. LIPPINCOTT WILLIAMS & WILKINSمصطلحات موضوعية: Cardiomyopathy, Dilated/genetics, Myocardium/metabolism, Cathepsin L, [SDV]Life Sciences [q-bio], Coronavirus Infections/complications, Up-Regulation/drug effects, Disease, 030204 cardiovascular system & hematology, 0302 clinical medicine, Pandemic, Myocyte, RNA-Seq, Respiratory system, Receptor, ComputingMilieux_MISCELLANEOUS, Cardiomyopathy, Hypertrophic/genetics, chemistry.chemical_classification, 0303 health sciences, biology, Serine Endopeptidases, Heart Ventricles/metabolism, Protease Inhibitors/pharmacology, Up-Regulation, 3. Good health, Cathepsin L/genetics, Angiotensin-converting enzyme 2, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Angiotensin-Converting Enzyme 2, Coronavirus Infections, Cardiology and Cardiovascular Medicine, Myocarditis/diagnosis, severe acute respiratory syndrome coronavirus 2, Cardiomyopathy, Dilated, 2019-20 coronavirus outbreak, Myocarditis, Cardiomyopathy, Heart Ventricles, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, Serine Endopeptidases/genetics, heart, Peptidyl-Dipeptidase A, Article, Betacoronavirus, 03 medical and health sciences, Viral/complications, Downregulation and upregulation, Physiology (medical), Correspondence, cardiovascular diseases, COVID-19, myocarditis, Research Letter, medicine, Humans, Protease Inhibitors, Pandemics, 030304 developmental biology, Betacoronavirus/isolation & purification, Hypertrophic/genetics, business.industry, SARS-CoV-2, Myocardium, Angiotensin-converting enzyme, Pneumonia, Cardiomyopathy, Hypertrophic, medicine.disease, Virology, Peptidyl-Dipeptidase A/chemistry, Enzyme, chemistry, Dilated/genetics, Immunology, biology.protein, Pneumonia, Viral/complications, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b6a7cec4d8aae888fe9662729eb353
https://research.rug.nl/en/publications/3220c8b9-6a61-464a-9f35-591df95ea86c -
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المؤلفون: Antonio de Marvao, Roddy Walsh, Jean-Claude Tardif, R. Thomas Lumbers, Eric Villard, Rafik Tadros, Peter Lichtner, Catherine Francis, Julie Amyot, Michelle Michels, Hugh Watkins, Julia Cadrin-Tourigny, Najim Lahrouchi, Rudolf A. de Boer, Patrick Garceau, Karin J. H. Verweij, Paul M. Matthews, Paul Elliott, S. Matthijs Boekholdt, Folkert W. Asselbergs, Declan P. O'Regan, Benjamin Meder, Joost A. Offerhaus, Nicola Whiffin, Jacco C. Karper, Jason D. Roberts, Marie-Pierre Dubé, Hideaki Suzuki, James S. Ware, Yigal M. Pinto, Thomas Meitinger, Guillaume Lettre, Hannah G. van Velzen, Arthur A.M. Wilde, Marjon van Slegtenhorst, Francesco Mazzarotto, Wouter P. te Rijdt, Paul J.R. Barton, Sanjay K Prasad, A. John Baksi, Michael W.T. Tanck, Mario Talajic, Roy Huurman, J. Peter van Tintelen, Connie R. Bezzina, Antonis Pantazis, Robert A. Hegele, Jentien M Vermeulen, Rachel Buchan, Imke Christiaans, Jan H. Veldink, Edgar T. Hoorntje, Elham Kayvanpour, Pascale Richard, Geneviève Giraldeau, Flavie Ader, Andrew Thain, Philippe L. L’Allier, Xiao Xu, Leander Beekman, David McCarty, Alexa M.C. Vermeer, Geraldine Sloane, Wenjia Bai, Andrew R. Harper, Jolanda van der Velden, Stuart A. Cook, Ken Kelu Bisabu, Philippe Charron, Deborah Schneider-Luftman
المساهمون: Human Genetics, ACS - Heart failure & arrhythmias, Cardiology, Adult Psychiatry, APH - Mental Health, ANS - Complex Trait Genetics, ANS - Compulsivity, Impulsivity & Attention, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, ACS - Amsterdam Cardiovascular Sciences, Epidemiology and Data Science, APH - Methodology, ACS - Atherosclerosis & ischemic syndromes, Human genetics, Physiology, Cardiovascular Centre (CVC), Clinical Genetics, Wellcome Trust, Department of Health, British Heart Foundation, Engineering & Physical Science Research Council (EPSRC), UK DRI Ltd, The Academy of Medical Sciences, Imperial College Healthcare NHS Trust- BRC Funding
المصدر: Nature genetics, 53(2), 128-134. Nature Publishing Group
Nature genetics
Tadros, R, Francis, C, Xu, X, Vermeer, A M C, Harper, A R, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, E T, te Rijdt, W P, Buchan, R J, van Velzen, H G, van Slegtenhorst, M A, Vermeulen, J M, Offerhaus, J A, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, J C, Veldink, J H, Kayvanpour, E, Pantazis, A, Baksi, A J, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, M W T, van Tintelen, J P, Thain, A, McCarty, D, Hegele, R A, Roberts, J D, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, l’Allier, P L, Garceau, P, Tardif, J-C, Boekholdt, S M, Lumbers, R T, Asselbergs, F W, Barton, P J R, Cook, S A, Prasad, S K, O’Regan, D P, van der Velden, J, Verweij, K J H, Talajic, M, Lettre, G, Pinto, Y M, Meder, B, Charron, P, de Boer, R A, Christiaans, I, Michels, M, Wilde, A A M, Watkins, H, Matthews, P M, Ware, J S & Bezzina, C R 2021, ' Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ', Nature Genetics, vol. 53, no. 2, pp. 128-134 . https://doi.org/10.1038/s41588-020-00762-2
Nature Genetics, 53(2), 128-134. Nature Publishing Groupمصطلحات موضوعية: Linkage disequilibrium, Cardiomyopathy, Dilated/genetics, Left, Cardiomyopathy, Genome-wide association study, Kaplan-Meier Estimate, VARIANTS, Ventricular Function, Left, Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, Dilated, Ventricular Function, 11 Medical and Health Sciences, Cardiomyopathy, Hypertrophic/genetics, Genetics & Heredity, 0303 health sciences, HERITABILITY, Single Nucleotide, MENDELIAN RANDOMIZATION, Cardiology, cardiovascular system, HEART, Life Sciences & Biomedicine, Ventricular Function, Left/genetics, Cardiomyopathy, Dilated, medicine.medical_specialty, Heart Ventricles, Quantitative Trait Loci, Biology, Quantitative trait locus, Sudden death, Polymorphism, Single Nucleotide, Article, Heart Ventricles/physiopathology, 03 medical and health sciences, Internal medicine, Mendelian randomization, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, GENOME-WIDE ASSOCIATION, Polymorphism, 030304 developmental biology, Genetic association, Science & Technology, Hypertrophic/genetics, Left/genetics, Case-control study, CONTRACTILITY, 06 Biological Sciences, Cardiomyopathy, Hypertrophic, medicine.disease, Hypertrophic, Dilated/genetics, Case-Control Studies, Genome-Wide Association Study, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Diederik W. D. Kuster, Maike Schuldt, Saskia Schlossarek, Jaco C. Knol, Thang V. Pham, Michiel Dalinghaus, Michelle Michels, Tim Schelfhorst, Connie R. Jimenez, Marie-Jo Moutin, Jolanda van der Velden, Sander R. Piersma, Jiayi Pei, Michal Mokry, Larissa M. Dorsch, Lucie Carrier, Magdalena Harakalova, Cris dos Remedios, Folkert W. Asselbergs
المساهمون: Amsterdam UMC - Amsterdam University Medical Center, University Medical Center [Utrecht], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), The University of Sydney, Erasmus University Medical Center [Rotterdam] (Erasmus MC), University College of London [London] (UCL), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Moutin, Marie-Jo, Pediatrics, Cardiology, Amsterdam UMC, Physiology, Medical oncology laboratory, Amsterdam Neuroscience - Neurodegeneration, ACS - Heart failure & arrhythmias
المصدر: Circulation. Heart failure
Circulation. Heart failure, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams & Wilkins
Circulation. Heart Failure
Circ Heart Fail
Circulation. Heart failure, 14(1). Lippincott Williams and Wilkins
Schuldt, M, Pei, J, Harakalova, M, Dorsch, L M, Schlossarek, S, Mokry, M, Knol, J C, Pham, T V, Schelfhorst, T, Piersma, S R, Dos Remedios, C, Dalinghaus, M, Michels, M, Asselbergs, F W, Moutin, M-J, Carrier, L, Jimenez, C R, van der Velden, J & Kuster, D W D 2021, ' Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 1, e007022 . https://doi.org/10.1161/CIRCHEARTFAILURE.120.007022
Circulation. Heart failure, Lippincott Williams & Wilkins, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams and Wilkinsمصطلحات موضوعية: Male, Carrier Proteins/genetics, Heart disease, genotype, [SDV]Life Sciences [q-bio], Haploinsufficiency, Troponin T/genetics, 030204 cardiovascular system & hematology, Gene mutation, Sarcomere, 0302 clinical medicine, Cardiomyopathy, Hypertrophic/genetics, 0303 health sciences, heart diseases, treatment, Hypertrophic cardiomyopathy, Sarcomeres/genetics, Middle Aged, 3. Good health, [SDV] Life Sciences [q-bio], ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, cardiovascular system, Cardiology, Female, Tyrosine/metabolism, medicine.symptom, Ventricular Septum/metabolism, Cardiology and Cardiovascular Medicine, Ventricular Outflow Obstruction/genetics, Sarcomeres, Adult, cardiomyopathies, Cardiac function curve, medicine.medical_specialty, Cardiomyopathy, Diastole, Ventricular outflow tract obstruction, Ventricular Septum, macromolecular substances, Article, Ventricular Outflow Obstruction, Myosin Heavy Chains/genetics, 03 medical and health sciences, proteomics, Troponin T, Internal medicine, Detyrosination, Cardiac Myosins/genetics, medicine, Animals, Humans, cardiovascular diseases, Aged, 030304 developmental biology, Heart Failure, Myosin Heavy Chains, Hypertrophic/genetics, Animal, business.industry, Troponin I, Original Articles, Tubulin/metabolism, Cardiomyopathy, Hypertrophic, medicine.disease, Troponin I/genetics, Disease Models, Animal, tubulin, Case-Control Studies, Disease Models, Tyrosine, mutation, Carrier Proteins, business, Cardiac Myosins
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536db8cc06d783840bdc2eb32fe1bbfe
https://doi.org/10.1161/circheartfailure.120.007022 -
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المؤلفون: Silméia Garcia Zanati Bazan, Fabrício Moreira Reis, Lucas Santos Nielsen Tinasi, Katashi Okoshi, Karina Nogueira Dias Secco Malagutte, Gilberto Ornellas de Oliveira, Rodrigo Bazan, Caroline Ferreira da Silva Mazeto Pupo da Silveira, João Carlos Hueb
المصدر: Arquivos Brasileiros de Cardiologia, Volume: 115, Issue: 5, Pages: 927-935, Published: 07 DEC 2020
Arquivos Brasileiros de Cardiologia v.115 n.5 2020
Arquivos Brasileiros de Cardiologia
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
Arquivos Brasileiros de Cardiologia, Vol 115, Iss 5, Pp 927-935 (2020)مصطلحات موضوعية: medicine.medical_specialty, Heart disease, Cardiomiopatia Hipertrófica/genética, Insuficiência Cardíaca, Heart failure, macromolecular substances, Disease, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Echocardiography/methods, Asymptomatic, Sudden Cardiac Death, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Diseases of the circulatory (Cardiovascular) system, Clinical severity, Hypertrophy, Left Ventricle, Cardiomyopathy, Hypertrophic/genetics, business.industry, Hypertrophic cardiomyopathy, medicine.disease, Morte Súbita, Ecocardiografia/métodos, Hipertrofia Ventricular, RC666-701, cardiovascular system, Cardiology, medicine.symptom, Cardiology and Cardiovascular Medicine, business
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4846c079c4020ca682a90bcd9391408e
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2020001300927&lng=en&tlng=en -
10رسالة جامعية
المؤلفون: Mörner, Stellan
مصطلحات موضوعية: Cardiomyopathy, hypertrophic -- genetics, Autonomic nervous system, Amyloid neropathies, familial, Echocardiography, Sweden
Degree: Diss. (sammanfattning) Umeå : Univ., 2004
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