Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Julie Rutberg"'
Autor:
Krystien V.V. Lieve, Shubhayan Sanatani, Martijn H. van der Ree, Martin S. Green, Thomas M. Roston, Eline A. Nannenberg, Jason D. Roberts, Benjamin Pang, Marc W. Deyell, Christopher C. Cheung, Arthur A.M. Wilde, Andrew D. Krahn, Zachary Laksman, Colette M. Seifer, Rafik Tadros, Christian Steinberg, Jason G. Andrade, Susan Conacher, Julie Rutberg
Publikováno v:
JACC: Clinical Electrophysiology, 5(3), 387-394. Elsevier USA
Objectives This investigation was a retrospective study of catecholaminergic polymorphic ventricular tachycardia (CPVT) patients in Canada and the Netherlands to compare pregnancy, postpartum, and nonpregnant event rates. Background CPVT is character
Autor:
Antoine Leenhardt, Shubhayan Sanatani, Susan P. Etheridge, Caitlin Brateng, Tomas Robyns, Isabelle Denjoy, Christopher Semsarian, Allan C. Skanes, Andrea Mazzanti, Jaimie Manlucu, Natalia Jura, Rahul C. Deo, Sean Connors, Andrew D. Krahn, Seshadri Balaji, Benjamin Pang, Michael J. Ackerman, Robert M. Hamilton, Julia Cadrin-Tourigny, Jason D. Roberts, Craig T. January, Arthur A.M. Wilde, Anthony Tang, Alice Maltret, Erron W. Titus, J. Martijn Bos, Silvia G. Priori, Dominic Abrams, Jeremy Wu, Martin S. Green, Frederick H. Deiter, Julie Rutberg, Jodie Ingles, Kevin Ng, Jeff S. Healey, Jan Till, Krystien V.V. Lieve, Lee L. Eckhardt, Christian van der Werf, Stephen A. Duffett, Peter S. Fischbach, Kathryn K. Collins, Kathleen R. Maginot, Kate M. Orland, Thomas M. Roston, Ferran Rosés I. Noguer, Linda M. Knight, Michael H. Gollob, Melvin M. Scheinman, Christian Steinberg
Publikováno v:
Circulation
Circulation, 142(10), 932-947. Lippincott Williams and Wilkins
Circulation, American Heart Association, 2020, 142 (10), pp.932-947. ⟨10.1161/CIRCULATIONAHA.120.045723⟩
Circulation, vol 142, iss 10
Circulation, 142(10), 932-947. Lippincott Williams and Wilkins
Circulation, American Heart Association, 2020, 142 (10), pp.932-947. ⟨10.1161/CIRCULATIONAHA.120.045723⟩
Circulation, vol 142, iss 10
Background:Genetic variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f65dd090adfafecad5435b8af35536a
https://europepmc.org/articles/PMC7484339/
https://europepmc.org/articles/PMC7484339/
Publikováno v:
Current Opinion in Cardiology. 32:189-195
PURPOSE OF REVIEW As rapid genetic testing has become increasingly accessible in a timely fashion, more genetic mutations are identified in inherited conditions such as cardiomyopathies. Understanding when to consider genetic testing is an important
Publikováno v:
Academic Forensic Pathology. 3:183-190
Sudden cardiac death is a tragic result of a number of cardiovascular diseases. While the majority of sudden cardiac death cases are in older individuals with coronary artery disease, victims also include younger people (those less than 40 years old)
Autor:
Christina Honeywell, Owen Middleton, Erin Demo, Frank Miller, J. Keith Pinckard, Jeff Jentzen, Carl C Stacy, R. Ross Reichard, Samantha Baxter, Heather MacLeod, Julie Rutberg
Publikováno v:
Academic Forensic Pathology. 3:191-194
Sudden unexpected death is typically diagnosed in infants, children, teenagers, and young adults following completion of an autopsy that fails to identify a cause of death or when autopsy suggests a potentially genetic cause of death in an individual
Autor:
Mouhannad M. Sadek, Julie Rutberg, Martin S. Green, Anita Y.M. Chan, Michael H. Gollob, Arnon Adler, Danna A. Spears, Edith Dell, Darryl R. Davis
Publikováno v:
Circulation. Arrhythmia and electrophysiology. 9(1)
Background— Patients with inherited arrhythmia syndromes are at an increased risk of sudden cardiac death (SCD). Specialized inherited arrhythmia clinics were founded to optimize management and prevention of SCD in this population. However, the cli
Autor:
Jason D. Roberts, Robert M. Gow, Ans C.P. Wiesfeld, Sarah M. Nikkel, J. P. van Tintelen, Julie Rutberg, Johanna C. Herkert, Dennis Dooijes, Michael H. Gollob
Publikováno v:
Clinical Genetics. 83:452-456
Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld ACP, Dooijes D, Gow RM, van Tintelen JP, Gollob MH. Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. Clin Genet 2013: 83: 452-456. (C) John Wiley & Sons
Autor:
Sean Connors, Andrew D. Krahn, Ratika Parkash, Martin Gardner, Shubhayan Sanatani, Michael Kantoch, Joel A. Kirsh, Damian P. Redfearn, Kathleen A. Hodgkinson, Louise Harris, Robert M. Gow, Michael H. Gollob, Robert J. Hamilton, Louis Blier, Jeff S. Healey, Ramon Brugada, Vijay S. Chauhan, Martin S. Green, Michelle A. Mullen, Jean Champagne, Christina Honeywell, Anna Woo, Julie Rutberg
Publikováno v:
Canadian Journal of Cardiology. 27:232-245
The era of gene discovery and molecular medicine has had a significant impact on clinical practice. Knowledge of specific genetic findings causative for or associated with human disease may enhance diagnostic accuracy and influence treatment decision
Autor:
Julie Rutberg, Gele Liu, Khanh Lam, Martin S. Green, Robert Lemery, Michael H. Gollob, David H. Birnie, Mohamed Chahine, Qiuju Li, Hai Huang
Publikováno v:
Biochemical and Biophysical Research Communications. 380:132-137
Genetic mutations of the cardiac sodium channel (SCN5A) specific only to the phenotype of atrial fibrillation have recently been described. However, data on the biophysical properties of SCN5A variants associated with atrial fibrillation are scarce.
Publikováno v:
American Journal of Medical Genetics Part A. :1466-1469
Molecular results provide a basis for diagnosis, risk assessment, medical management and genetic counseling. Unlike other areas of laboratory medicine, molecular genetic tests are rarely repeated. We describe three patients with suspected inherited a