Search Results - "MacKenzie, Alex E."

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    Rare-disease genetics in the era of next-generation sequencing: discovery to translation by Boycott, Kym M., Vanstone, Megan R., Bulman, Dennis E., MacKenzie, Alex E.

    Published in Nature reviews. Genetics (01-10-2013)
    “…Key Points Next-generation sequencing (NGS) and improved sequence analysis methods have markedly increased the rate of identification of genes that cause rare…”
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    Physical Activity, Gut Microbiota, and Genetic Background for Children and Adolescents with Autism Spectrum Disorder by Plaza-Diaz, Julio, Radar, Ana Mei, Baig, Aiman Tariq, Leyba, Marcos Federico, Costabel, Maria Macarena, Zavala-Crichton, Juan Pablo, Sanchez-Martinez, Javier, MacKenzie, Alex E, Solis-Urra, Patricio

    Published in Children (Basel) (27-11-2022)
    “…It is estimated that one in 100 children worldwide has been diagnosed with autism spectrum disorder (ASD). Children with ASD frequently suffer from gut…”
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    A generalizable pre-clinical research approach for orphan disease therapy by Beaulieu, Chandree L, Samuels, Mark E, Ekins, Sean, McMaster, Christopher R, Edwards, Aled M, Krainer, Adrian R, Hicks, Geoffrey G, Frey, Brendan J, Boycott, Kym M, Mackenzie, Alex E

    Published in Orphanet journal of rare diseases (15-06-2012)
    “…With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will…”
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    Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario by DiBattista, Alicia, Ogrel, Svetlana, MacKenzie, Alex E., Chakraborty, Pranesh

    “…Background Estimating rates of prenatal alcohol exposure (PAE) in a population is necessary to ensure that proper medical and social supports and interventions…”
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    COVID-19 wastewater surveillance in rural communities: Comparison of lagoon and pumping station samples by D'Aoust, Patrick M., Towhid, Syeda Tasneem, Mercier, Élisabeth, Hegazy, Nada, Tian, Xin, Bhatnagar, Kamya, Zhang, Zhihao, Naughton, Colleen C., MacKenzie, Alex E., Graber, Tyson E., Delatolla, Robert

    Published in The Science of the total environment (20-12-2021)
    “…Wastewater-based epidemiology/wastewater surveillance has been a topic of significant interest over the last year due to its application in SARS-CoV-2…”
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    The Neuronal Apoptosis Inhibitory Protein Is a Direct Inhibitor of Caspases 3 and 7 by Maier, Johannes K. X, Lahoua, Zahia, Gendron, Nathalie H, Fetni, Raouf, Johnston, Anne, Davoodi, Jamshid, Rasper, Dita, Roy, Sophie, Slack, Ruth S, Nicholson, Donald W, MacKenzie, Alex E

    Published in The Journal of neuroscience (15-03-2002)
    “…The neuronal apoptosis inhibitory protein (NAIP) was identified as a candidate gene for the inherited neurodegenerative disorder spinal muscular atrophy. NAIP…”
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    Distribution of Neuronal Apoptosis Inhibitory Protein in Human Tissues by Maier, Johannes K.X, Balabanian, Sylvia, Coffill, Cynthia R, Stewart, Alexandra, Pelletier, Louise, Franks, Douglas J, Gendron, Nathalie H, MacKenzie, Alex E

    “…The neuronal apoptosis inhibitory protein (NAIP) gene, also known as the baculovirus inhibitor of apoptosis repeat-containing protein 1 (BIRC1) gene, is a…”
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