Search Results - "Giroux, Sylvie"

Investigating the causal role of MRE11A p.E506 in breast and ovarian cancer by Elkholi, Islam E., Di Iorio, Massimo, Fahiminiya, Somayyeh, Arcand, Suzanna L., Han, HyeRim, Nogué, Clara, Behl, Supriya, Hamel, Nancy, Giroux, Sylvie, de Ladurantaye, Manon, Aleynikova, Olga, Gotlieb, Walter H., Côté, Jean-François, Rousseau, François, Tonin, Patricia N., Provencher, Diane, MesMasson, Anne-Marie, Akbari, Mohammad R., Rivera, Barbara, Foulkes, William D.

“…The nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1-related molecular function in the…”
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Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma by Rivera, Barbara, Di Iorio, Massimo, Frankum, Jessica, Nadaf, Javad, Fahiminiya, Somayyeh, Arcand, Suzanna L, Burk, David L, Grapton, Damien, Tomiak, Eva, Hastings, Valerie, Hamel, Nancy, Wagener, Rabea, Aleynikova, Olga, Giroux, Sylvie, Hamdan, Fadi F, Dionne-Laporte, Alexandre, Zogopoulos, George, Rousseau, Francois, Berghuis, Albert M, Provencher, Diane, Rouleau, Guy A, Michaud, Jacques L, Mes-Masson, Anne-Marie, Majewski, Jacek, Bens, Susanne, Siebert, Reiner, Narod, Steven A, Akbari, Mohammad R, Lord, Christopher J, Tonin, Patricia N, Orthwein, Alexandre, Foulkes, William D

“…RAD51D is a key player in DNA repair by homologous recombination (HR), and truncating variant carriers have an increased risk for ovarian cancer. However, the…”
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Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics by Blais, Jonatan, Lavoie, Sébastien B, Giroux, Sylvie, Bussières, Johanne, Lindsay, Carmen, Dionne, Jacqueline, Laroche, Mélissa, Giguère, Yves, Rousseau, François

“…Quality control is a complex issue for clinical molecular diagnostic applications. In the case of genotyping assays, artifacts such as allele dropout represent…”
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LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women by Giroux, Sylvie, Elfassihi, Latifa, Cardinal, Guy, Laflamme, Nathalie, Rousseau, François

“…Abstract Introduction Bone mineral density has a strong genetic component but it is also influenced by environmental factors making it a complex trait to…”
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Intermittent, Noncyclic Dysfunction of a Mechanical Aortic Prosthesis by Pannus Formation by Giroux, Sylvie K., MD, Labinaz, Marino X., MD, Grisoli, Dominique, MD, Klug, Andrew P., MD, Veinot, John P., MD, Burwash, Ian G., MD

“…Mechanical aortic prosthesis dysfunction can result from thrombosis or pannus formation. Pannus formation usually restricts systolic excursion of the occluding…”
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Atypical presentation of an anomalous origin of the right coronary artery with severe compression between the great vessels by Giroux, Sylvie K, Cartier, Raymond

“…Anomalous aortic origin of the right coronary artery is a rare coronary anomaly which, in a minority of cases, can cause clinical manifestations such as…”
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Improving Fetal Fraction of Noninvasive Prenatal Screening Samples Collected in EDTA-Gel Tubes Using Gel Size Selection by Daryabari, Seyedeh S., Giroux, Sylvie, Caron, André, Chau, Briana, Langlois, Sylvie, Rousseau, François

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Germline RECQL mutations are associated with breast cancer susceptibility by Cybulski, Cezary, Carrot-Zhang, Jian, Kluźniak, Wojciech, Rivera, Barbara, Kashyap, Aniruddh, Wokołorczyk, Dominika, Giroux, Sylvie, Nadaf, Javad, Hamel, Nancy, Zhang, Shiyu, Huzarski, Tomasz, Gronwald, Jacek, Byrski, Tomasz, Szwiec, Marek, Jakubowska, Anna, Rudnicka, Helena, Lener, Marcin, Masojć, Bartłomiej, Tonin, Patrica N, Rousseau, Francois, Górski, Bohdan, Dębniak, Tadeusz, Majewski, Jacek, Lubiński, Jan, Foulkes, William D, Narod, Steven A, Akbari, Mohammad R

“…Mohammad Akbari and colleagues report that rare truncating mutations in RECQL are associated with breast cancer susceptibility. RECQL encodes a helicase that…”
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Improving Fetal Fraction of Noninvasive Prenatal Screening Samples Collected in EDTA-Gel Tubes Using Gel Size Selection: A Head-To-Head Comparison of Methods by Daryabari, Seyedeh S, Giroux, Sylvie, Caron, André, Chau, Briana, Langlois, Sylvie, Rousseau, François

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Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive PrenatalTesting by Blais, Jonatan, Giroux, Sylvie, Caron, Andre, Clement, Valerie, Rousseau, Frangois

“…Background: The performance of noninvasive prenatal testing (NIPT) assays is critically determined by the proportion of fetal DNA or fetal fraction (FF)…”
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Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes by Blais, Jonatan, Lavoie, Sébastien B, Giroux, Sylvie, Bussières, Johanne, Lindsay, Carmen, Dionne, Jacqueline, Laroche, Mélissa, Giguère, Yves, Rousseau, François

“…Quality control is a complex issue for clinical molecular diagnostic applications. In the case of genotyping assays, artifacts such as allele dropout represent…”
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Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening by Fibke, Chad, Giroux, Sylvie, Caron, André, Starks, Elizabeth, Parker, Jeremy D K, Swanson, Lucas, Jouan, Loubna, Langlois, Sylvie, Rouleau, Guy, Rousseau, François, Karsan, Aly

“…Non-invasive prenatal testing requires the presence of fetal DNA in maternal plasma. Understanding how preexamination conditions affect the integrity of…”
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Validation of a New Protocol to Collect and Isolate Plasma from Pregnant Women for Noninvasive Prenatal Testing (NIPT) by Giroux, Sylvie, Badeau, Mylene, Jeuken, Julie, Caron, Andre, Girouard, Joël, Rousseau, François

“…Most laboratories use specialized tubes (e.g., Streck) to recover circulating cell-free DNA (ccfDNA) for noninvasive prenatal testing (NIPT). We validated a…”
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Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study by Rousseau, François, Langlois, Sylvie, Johnson, Jo-Ann, Gekas, Jean, Bujold, Emmanuel, Audibert, François, Walker, Mark, Giroux, Sylvie, Caron, André, Clément, Valérie, Blais, Jonatan, MacLeod, Tina, Moore, Richard, Gauthier, Julie, Jouan, Loubna, Laporte, Alexandre, Diallo, Ousmane, Parker, Jeremy, Swanson, Lucas, Zhao, Yongjun, Labelle, Yves, Giguère, Yves, Forest, Jean-Claude, Little, Julian, Karsan, Aly, Rouleau, Guy

“…We compared clinical validity of two non-invasive prenatal screening (NIPS) methods for fetal trisomies 13, 18, 21, and monosomy X. We recruited prospectively…”
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Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive Prenatal Testing by Blais, Jonatan, Giroux, Sylvie, Caron, André, Clément, Valérie, Rousseau, François

“…Abstract Background The performance of noninvasive prenatal testing (NIPT) assays is critically determined by the proportion of fetal DNA or fetal fraction…”
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Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values by Blais, Jonatan, Giroux, Sylvie, Caron, André, Clément, Valérie, Dionne-Laporte, Alexandre, Jouan, Loubna, Gauthier, Julie, MacLeod, Tina, Moore, Richard, Parker, Jeremy, Swanson, Lucas, Zhao, Yongjun, Rouleau, Guy, Karsan, Aly, Langlois, Sylvie, Rousseau, François

“…Non-invasive prenatal aneuploidy testing (NIPT) by next-generation sequencing of circulating cell-free DNA in maternal plasma relies on chromosomal ratio…”
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Inositol Polyphosphate 4-Phosphatase B as a Regulator of Bone Mass in Mice and Humans by Ferron, Mathieu, Boudiffa, Maya, Arsenault, Michel, Rached, Mohamed, Pata, Monica, Giroux, Sylvie, Elfassihi, Latifa, Kisseleva, Marina, Majerus, Philip W., Rousseau, François, Vacher, Jean

“…Osteoporosis is a multifactorial genetic disease characterized by reduction of bone mass due to dysregulation of osteoclast differentiation or maturation…”
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Meta‐analysis of genome‐wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women by Koller, Daniel L, Zheng, Hou‐Feng, Karasik, David, Yerges‐Armstrong, Laura, Liu, Ching‐Ti, McGuigan, Fiona, Kemp, John P, Giroux, Sylvie, Lai, Dongbing, Edenberg, Howard J, Peacock, Munro, Czerwinski, Stefan A, Choh, Audrey C, McMahon, George, St Pourcain, Beate, Timpson, Nicholas J, Lawlor, Debbie A, Evans, David M, Towne, Bradford, Blangero, John, Carless, Melanie A, Kammerer, Candace, Goltzman, David, Kovacs, Christopher S, Prior, Jerilynn C, Spector, Tim D, Rousseau, Francois, Tobias, Jon H, Akesson, Kristina, Econs, Michael J, Mitchell, Braxton D, Richards, J Brent, Kiel, Douglas P, Foroud, Tatiana

“…Previous genome‐wide association studies (GWAS) have identified common variants in genes associated with variation in bone mineral density (BMD), although most…”
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Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women by Foulkes, William D, Ghadirian, Parviz, Akbari, Mohammed Reza, Hamel, Nancy, Giroux, Sylvie, Sabbaghian, Nelly, Darnel, Andrew, Royer, Robert, Poll, Aletta, Fafard, Eve, Robidoux, André, Martin, Ginette, Bismar, Tarek A, Tischkowitz, Marc, Rousseau, Francois, Narod, Steven A

“…Abstract Background PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but…”
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Development of Reference Materials for Noninvasive Prenatal Aneuploidy Testing by Massively Parallel Sequencing: A Proof-of-Concept Study by Blais, Jonatan, Giroux, Sylvie, Caron, André, Clément, Valérie, Rousseau, François

“…Abstract Background Noninvasive prenatal aneuploidy testing (NIPT) represents the first large-scale clinical application of massively parallel sequencing…”
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