Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Elijah R. Behr"'
Autor:
Eloisa Arbustini, Elijah R Behr, Lucie Carrier, Cornelia van Duijn, Paul Evans, Valentina Favalli, Pim van der Harst, Kristina Hermann Haugaa, Guillaume Jondeau, Stefan Kääb, Juan Pablo Kaski, Maryam Kavousi, Bart Loeys, Antonis Pantazis, Yigal Pinto, Heribert Schunkert, Alessandro Di Toro, Thomas Thum, Mario Urtis, Johannes Waltenberger, Perry Elliott
Publikováno v:
European heart journal, 43(20), 1901-1916. Oxford University Press
European Heart Journal, 43(20), 1901-1916. Oxford University Press
European heart journal
European Heart Journal, 43(20), 1901-1916. Oxford University Press
European heart journal
This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5901bece5b503663fffd866fe26c54
https://pure.amc.nl/en/publications/interpretation-and-actionability-of-genetic-variants-in-cardiomyopathies(00191977-5f56-4131-aeae-277a1079930a).html
https://pure.amc.nl/en/publications/interpretation-and-actionability-of-genetic-variants-in-cardiomyopathies(00191977-5f56-4131-aeae-277a1079930a).html
Autor:
Adam A. Witney, Tessa Homfray, Maite Tome, Elijah R. Behr, Nicholas Bunce, Belinda Gray, Michael Papadakis, Chris Miles, Paulo Bulleros, James S. Ware, Harshil Dhutia, Aneil Malhotra, Rajan Sharma, Bode Ensam, Zeph Fanton, Lisa J. Anderson, Stathis Papatheodorou, Mary N. Sheppard, Sanjay Sharma, Gherardo Finocchiaro
Publikováno v:
Europace
Aims Idiopathic left ventricular hypertrophy (LVH) is defined as LVH in the absence of myocyte disarray or secondary causes. It is unclear whether idiopathic LVH represents the phenotypic spectrum of hypertrophic cardiomyopathy (HCM) or whether it is
Autor:
Lennart J. Blom, Ingrid P.C. Krapels, Bo Gregers Winkel, Sanne A Groeneveld, Greg Mellor, Elijah R. Behr, Jacob Tfelt-Hansen, Bianca van Rees, Chiara Scrocco, Johannes Bargehr, Andrew D. Krahn, Paul G.A. Volders, Rutger J. Hassink, Bode Ensam
Publikováno v:
Circulation-Arrhythmia and Electrophysiology, 14(3):009089, 296-305. LIPPINCOTT WILLIAMS & WILKINS
Background: Familial cascade screening is well established in patients with heritable cardiac disease and in cases of sudden arrhythmic death syndrome. The clinical benefit of family screening in idiopathic ventricular fibrillation (IVF) is unknown.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9ffd4431bda1ebbdb157fb30417fca
https://cris.maastrichtuniversity.nl/en/publications/1d14a670-eafe-4db2-a944-4b5c7bb0abe0
https://cris.maastrichtuniversity.nl/en/publications/1d14a670-eafe-4db2-a944-4b5c7bb0abe0
Autor:
Yvonne M. Hoedemaekers, M. Ben Shoemaker, Pascale Guicheney, Antoine Leenhardt, Andrea Mazzanti, Minoru Horie, Jan H. Veldink, Isabelle Denjoy, Yu Kucho, Chiea Chuen Khor, Tomas Robyns, Carlo Napolitano, Peter Weeke, J. Martijn Bos, David J. Tester, Hanno L. Tan, Annika Rydberg, Patrick T. Ellinor, Pilar Galan, Taisuke Ishikawa, Seiko Ohno, Peter J. Schwartz, Masao Yoshinaga, Thomas Werge, Marta Ribasés, Bart Loeys, Jean-Jacques Schott, Jacob Tfelt-Hansen, Ulla-Britt Diamant, Marko Ernsting, Georgia Sarquella-Brugada, Yuka Mizusawa, Michael Christiansen, Pyotr G. Platonov, Annika Winbo, Thomas Meitinger, Keiko Shimamoto, Cristina Barlassina, Pieter G. Postema, Takeru Makiyama, Maarten P. van den Berg, Yanushi D. Wijeyeratne, Wataru Shimizu, Charles Antzelevitch, Christopher Newton-Cheh, Martina Müller-Nurasyid, Dan M. Roden, Vincent Probst, Takeshi Aiba, Lia Crotti, Daniele Cusi, Britt M. Beckmann, Johan Saenen, Peter Lichtner, Oscar Campuzano, Tin Aung, Nynke Hofman, Morten S. Olesen, Matteo Pedrazzini, Elijah R. Behr, Karen E. Morrison, Najim Lahrouchi, Katja E. Odening, Andrew D. Krahn, Kari L. Turkowski, J. Peter van Tintelen, Steven A. Lubitz, Federica Dagradi, Josep Brugada, Julien Barc, Birgit Stallmeyer, Stefan Kääb, Sven Zumhagen, Jonathan R. Skinner, Michael W.T. Tanck, Christopher Shaw, Brianna Davies, Eric Schulze-Bahr, Mineo Ozaki, Roddy Walsh, Antoine Andorin, Leonard H. van den Berg, Silvia G. Priori, Johannes Steinfurt, Jean-Baptiste Gourraud, Eline A. Nannenberg, Mark Lathrop, Rafik Tadros, Ramon Brugada, Leander Beekman, Peter M. Andersen, Ryan Pfeiffer, Boris Rudic, Reza Jabbari, Kanae Hasegawa, Jeroen Breckpot, Naomasa Makita, Michael J. Ackerman, Arthur A.M. Wilde, Hideki Itoh, Martin Borggrefe, Elena Arbelo, Connie R. Bezzina, Pamela J. Shaw, Ammar Al-Chalabi, Markus Munter
Publikováno v:
Circulation, 142(4), 324-338. Lippincott Williams and Wilkins
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06b61364655bada7ed23840f1c05d61
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html
Autor:
Elijah R. Behr, Yanushi D. Wijeyeratne
Publikováno v:
Trends in Cardiovascular Medicine. 27:207-213
Approximately 4% of sudden cardiac deaths are unexplained [the sudden arrhythmic death syndrome (SADS)], and up to 6-10% of survivors of cardiac arrest do not have an identifiable cardiac abnormality after comprehensive clinical evaluation [idiopathi
Autor:
Elijah R. Behr, Kirsten Bartels, David J. Tester, Greg Mellor, Shubhayan Sanatani, Seshadri Balaji, Christopher S. Simpson, Pankaj Panwar, Christian Steinberg, Ngai Shing Mok, Richard Leather, Julie Hathaway, Andrew D. Krahn, Craig T. January, Christopher C. Erickson, Shelley Falik, Raul Weiss, Paul L. Eugenio, George McDaniel, Arthur A.M. Wilde, Nicole J. Boczek, Jason D. Roberts, Robert M. Hamilton, Elizabeth S. Kaufman, Zachary Laksman, Andrea K Y Lee, Susan Christian, Andrew E. Radbill, Michael J. Ackerman, Filip Van Petegem
Publikováno v:
EP Europace, 21(11), 1725-1732. Oxford University Press
Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods
Autor:
Carmen Adamuz, Nabeel Sheikh, Michael Papadakis, Aneil Malhotra, Tessa Homfray, Lorenzo Monserrat, Sanjay Sharma, Elijah R. Behr, Mathew G Wilson
Publikováno v:
Sheikh, N, Papadakis, M, Wilson, M, Malhotra, A, Adamuz, C, Homfray, T, Monserrat, L, Behr, E R & Sharma, S 2018, ' Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion ', Circulation, vol. 138, no. 12, pp. 1184-1194 . https://doi.org/10.1161/CIRCULATIONAHA.118.034208
Background: T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06ee1375883f75219006cc2bf0be52d
https://openaccess.sgul.ac.uk/id/eprint/109841/7/CIRCULATIONAHA.118.034208.pdf
https://openaccess.sgul.ac.uk/id/eprint/109841/7/CIRCULATIONAHA.118.034208.pdf
Autor:
Michael W.T. Tanck, J Galvin, Elijah R. Behr, Alison Muir, Takeshi Aiba, Naomasa Makita, Stephen P. Page, Christian Veltmann, Johan M Bos, Yanushi D. Wijeyeratne, Isabelle Denjoy, Dan M. Roden, Lia Crotti, V Probst, Seiko Ohno
Publikováno v:
European Heart Journal. 39
Publikováno v:
Circulation: Arrhythmia and Electrophysiology. 7:800-806
Background— Sudden arrhythmic death syndrome defines a sudden unexpected and unexplained death despite comprehensive pathological and toxicological investigation. Previous studies have focused on evaluation of adult relatives. There is, however, a
Autor:
Garrett W. Shanks, Michael J. Ackerman, David J. Tester, Michael A. Simpson, Elijah R. Behr, Steven M. White, Jaeger P. Ackerman
Publikováno v:
Circulation. 137(25)
Background: Potentially lethal cardiac channelopathies/cardiomyopathies may underlie a substantial portion of sudden unexplained death in the young (SUDY). The whole-exome molecular autopsy represents the latest approach to postmortem genetic testing