Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Laura, Arbour"'
Autor:
Simona Bene Watts, Barbara Gauthier, Anders C. Erickson, Julie Morrison, Mavis Sebastian, Lawrence Gillman, Sarah McIntosh, Connie Ens, Elizabeth Sherwin, Rod McCormick, Shubhayan Sanatani, Laura Arbour
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionCongenital Long QT Syndrome (LQTS) is common in a First Nations community in Northern British Columbia due to the founder variant KCNQ1 p.V205M. Although well characterized molecularly and clinically in adults, no data have been previousl
Externí odkaz:
https://doaj.org/article/18499b3cdaea4a0baf897ebbacd8c308
Autor:
Mikyla L. Janzen, MSc, Brianna Davies, MSc, Zachary W.M. Laksman, MD, Jason D. Roberts, MD, Shubhayan Sanatani, MD, Christian Steinberg, MD, Rafik Tadros, MD, Julia Cadrin-Tourigny, MD, Ciorsti MacIntyre, MD, Joseph Atallah, MD, Anne Fournier, MD, Martin S. Green, MD, Robert Hamilton, MD, Habib R. Khan, MBBS, PhD, Shane Kimber, MD, Steven White, MD, PhD, Jacqueline Joza, MD, Bhavanesh Makanjee, MD, Erkan Ilhan, MD, David Lee, MD, Simon Hansom, MD, Alexios Hadjis, MD, Laura Arbour, MD, Richard Leather, MD, Colette Seifer, MD, Paul Angaran, MD, Christopher S. Simpson, MD, Jeffrey S. Healey, MD, Martin Gardner, MD, Mario Talajic, MD, Andrew D. Krahn, MD
Publikováno v:
CJC Open, Vol 5, Iss 4, Pp 268-284 (2023)
Inherited arrhythmia syndromes are rare genetic conditions that predispose seemingly healthy individuals to sudden cardiac arrest and death. The Hearts in Rhythm Organization is a multidisciplinary Canadian network of clinicians, researchers, patient
Externí odkaz:
https://doaj.org/article/a38f80ee67804815b49b83c92c51af13
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 2, p 56 (2024)
Novel genetic risk markers have helped us to advance the field of cardiovascular epidemiology and refine our current understanding and risk stratification paradigms. The discovery and analysis of variants can help us to tailor prognostication and man
Externí odkaz:
https://doaj.org/article/d584b8bd2f534889a277b95462e8ce7f
Autor:
Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour, Maja Tarailo-Graovac
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that
Externí odkaz:
https://doaj.org/article/c058a28ebd86479c88016e4fb63d6f23
Autor:
Lauren A. Yee, Hui‐Chen Han, Brianna Davies, Charles M. Pearman, Zachary W. M. Laksman, Jason D. Roberts, Christian Steinberg, Rafik Tadros, Julia Cadrin‐Tourigny, Christopher S. Simpson, Martin Gardner, Ciorsti MacIntyre, Laura Arbour, Richard Leather, Anne Fournier, Martin S. Green, Shane Kimber, Paul Angaran, Shubhayan Sanatani, Jacqueline Joza, Habib Khan, Jeffrey S. Healey, Joseph Atallah, Colette Seifer, Andrew D. Krahn
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 18 (2022)
Background Diagnosis of congenital long‐QT syndrome (LQTS) is complicated by phenotypic ambiguity, with a frequent normal‐to‐borderline resting QT interval. A 3‐step algorithm based on exercise response of the corrected QT interval (QTc) was
Externí odkaz:
https://doaj.org/article/74f68265baa04c09ab267ca8700c9a52
Autor:
Brianna Davies, MSc, CGC, Jason D. Roberts, MD, Rafik Tadros, MD, PhD, Martin S. Green, MD, Jeffrey S. Healey, MD, Christopher S. Simpson, MD, Shubhayan Sanatani, MD, Christian Steinberg, MD, Ciorsti MacIntyre, MD, Paul Angaran, MD, Henry Duff, MD, Robert Hamilton, MD, Laura Arbour, MD, Richard Leather, MD, Colette Seifer, MD, Anne Fournier, MD, Joseph Atallah, MD, Shane Kimber, MD, Bhavanesh Makanjee, MD, Wael Alqarawi, MD, Julia Cadrin-Tourigny, MD, Jacqueline Joza, MD, Jimmy McKinney, MD, Stephanie Clarke, MSc, CGC, CCGC, Zachary W.M. Laksman, MD, Karen Gibbs, RN, CCRP, Vuk Vuksanovic, PhD, Martin Gardner, MD, Mario Talajic, MD, Andrew D. Krahn, MD
Publikováno v:
CJC Open, Vol 2, Iss 6, Pp 652-662 (2020)
Background: The Hearts in Rhythm Organization (HiRO) is a team of Canadian inherited heart rhythm and cardiomyopathy experts, genetic counsellors, nurses, researchers, patients, and families dedicated to the detection of inherited arrhythmias and car
Externí odkaz:
https://doaj.org/article/f041fdf3cbf844368c5085674e3c2042
Autor:
Sorcha A. Collins, Sharon Edmunds, Gwen Healey Akearok, J. Robert Thompson, Anders C. Erickson, Elske Hildes-Ripstein, Amber Miners, Martin Somerville, David M. Goldfarb, Cheryl Rockman-Greenberg, Laura Arbour
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Objective: Infectious illness, including lower respiratory tract infection (LRTI), is a leading cause of childhood morbidity and infant mortality in Inuit children in Nunavut Canada. The carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant is co
Externí odkaz:
https://doaj.org/article/f75e9481d76c43b19b31dcc174ede376
Autor:
Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequ
Externí odkaz:
https://doaj.org/article/fd0e65b495e942c6b66615fabcd72740
Autor:
Nadine Rena Caron, Meck Chongo, Maui Hudson, Laura Arbour, Wyeth W. Wasserman, Stephen Robertson, Solenne Correard, Phillip Wilcox
Publikováno v:
Frontiers in Public Health, Vol 8 (2020)
The potential to grow genomic knowledge and harness the subsequent clinical benefits has escalated the building of background variant databases (BVDs) for genetic diagnosis across the globe. Alongside the upsurge of this precision medicine, potential
Externí odkaz:
https://doaj.org/article/54ea518981ea4ad98caaccfe1a831c9e
Autor:
Matthew Tung, Filip Van Petegem, Samantha Lauson, Ashley Collier, Kathy Hodgkinson, Bridget Fernandez, Sean Connors, Rick Leather, Shubhayan Sanatani, Laura Arbour
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia predominantly caused by pathogenic variants in the cardiac ryanodin
Externí odkaz:
https://doaj.org/article/861e504f763641c7881df78ba8fda66d