Search Results - "Howley, Heather E."

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases by Hartley, Taila, Lemire, Gabrielle, Kernohan, Kristin D, Howley, Heather E, Adams, David R, Boycott, Kym M

“…Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare…”
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Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada by Dougan, Shelley D, Okun, Nan, Bellai-Dussault, Kara, Meng, Lynn, Howley, Heather E, Huang, Tianhua, Reszel, Jessica, Lanes, Andrea, Walker, Mark C, Armour, Christine M

“…The emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly…”
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The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms by Boycott, Kym M., Campeau, Philippe M., Howley, Heather E., Pavlidis, Paul, Rogic, Sanja, Oriel, Christine, Berman, Jason N., Hamilton, Robert M., Hicks, Geoffrey G., Lipshitz, Howard D., Masson, Jean-Yves, Shoubridge, Eric. A., Junker, Anne, Leroux, Michel R., McMaster, Christopher R., Michaud, Jaques L., Turvey, Stuart E., Dyment, David, Innes, A. Micheil, van Karnebeek, Clara D., Lehman, Anna, Cohn, Ronald D., MacDonald, Ian M., Rachubinski, Richard A., Frosk, Patrick, Vandersteen, Anthony, Wozniak, Richard W., Pena, Izabella A., Wen, Xiao-Yan, Lacaze-Masmonteil, Thierry, Rankin, Catharine, Hieter, Philip

“…Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic…”
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Nablus syndrome: Easy to diagnose yet difficult to solve by Allanson, Judith, Smith, Amanda, Forzano, Francesca, Lin, Angela E., Raas‐Rothschild, Annick, Howley, Heather E., Boycott, Kym M.

“…Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed…”
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A systematic review of the association between factor V Leiden or prothrombin gene variant and intrauterine growth restriction by Howley, Heather E.A., Walker, Mark, Rodger, Marc A.

“…The purpose of this study was to conduct a systematic review of the literature of studies that examined the association between factor V Leiden and/or…”
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The interobserver reliability of pretest probability assessment in patients with suspected pulmonary embolism by Rodger, Marc A., Maser, Elana, Stiell, Ian, Howley, Heather E.A., Wells, Philip S.

“…Pretest probability assessment and objective testing are combined to appropriately manage patients with suspected pulmonary embolism (PE). However, the…”
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Pelvic magnetic resonance venography reveals high rate of pelvic vein thrombosis after cesarean section by Rodger, Marc A., Avruch, Leonard I., Howley, Heather E., Olivier, Andre, Walker, Mark C.

“…In the run-in phase of a thromboprophylactic trial in women at moderate to high risk of deep vein thrombosis postcesarean section, we used magnetic resonance…”
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Clinical Management Recommendations for Surveillance and Risk-Reduction Strategies for Hereditary Breast and Ovarian Cancer Among Individuals Carrying a Deleterious BRCA1 or BRCA2 Mutation by Horsman, Doug, MD, FRCPC, Wilson, Brenda J., MBChB, MSc, MRCP, FFPH, Avard, Denise, PhD, Meschino, Wendy S., MD, FRCPC, Kim Sing, Charmaine, MBChB, FRCPC, Plante, Marie, MD, FRCSC, Eisen, Andrea, MD, FRCPC, Howley, Heather E., MSc, Simard, Jacques, PhD

“…Abstract Background In Canada, there are wide variations in services for patients at risk for hereditary breast and ovarian cancer (HBOC), and clinical…”
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Pelvic Magnetic Resonance Venography Reveals High Rate of Pelvic Vein Thrombosis After Cesarean Section by Rodger, Marc A, Avruch, Leonard I, Howley, Heather E, Olivier, Andre, Walker, Mark C

“…Venous thromboembolism (VTE) not only remains the major cause of direct maternal mortality in developed countries worldwide, but reportedly causes more than…”
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The outpatient treatment of deep vein thrombosis delivers cost savings to patients and their families, compared to inpatient therapy by Rodger, Marc A, Gagné-Rodger, Christine, Howley, Heather E, Carrier, Marc, Coyle, Doug, Wells, Philip S

“…Background: The outpatient treatment of deep vein thrombosis (DVT) with low-molecular-weight heparin (LMWH) has been shown to be cost-effective from the…”
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