Search Results - "KU, Lisa"

Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer by Sanders, Brooke E., Ku, Lisa, Walker, Paul, Bitler, Benjamin G.

“…The clinical use of molecular tumor profiling (MTP) is expanding and there is an increasing use of MTP data to manage patient care. At the University of…”
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Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations by Sanders, Brooke E., Wolsky, Rebecca, Doughty, Elizabeth S., Wells, Kristen L., Ghosh, Debashis, Ku, Lisa, Pressey, Joseph G., Bitler, Benjamin G., Brubaker, Lindsay W.

“…•Small cell carcinoma of the ovary is a rare and aggressive disease.•Durable outcomes have been shown with the use of a multi-chemotherapy regimen and heated…”
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Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth by Lowery, Jan T., Axell, Lisen, Ku, Lisa, Todd, Emily B., Kao, Dave, Rafaels, Nick, Taylor, Matt R.G., Kudron, Elizabeth, Wicks, Stephen, Jirikowic, Jean, Shalowitz, Elise, Crooks, Kristy R.

“…To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. Enrollment in the biobank is…”
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Prevalence of desmin mutations in dilated cardiomyopathy by TAYLOR, Matthew R. G, SLAVOV, Dobromir, XIAO ZHU, CAVANAUGH, Jean, SUCHAROV, Carmen C, LONG, Carlin S, BRISTOW, Michael R, LAVORI, Philip, MESTRONI, Luisa, KU, Lisa, DI LENARDA, Andrea, SINAGRA, Gianfranco, CARNIEL, Elisa, HAUBOLD, Kurt, BOUCEK, Mark M, FERGUSON, Debra, GRAW, Sharon L

“…Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. Mutations in the central 2B…”
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Danon disease presenting with dilated cardiomyopathy and a complex phenotype by Taylor, Matthew R G, Ku, Lisa, Slavov, Dobromir, Cavanaugh, Jean, Boucek, Mark, Zhu, Xiao, Graw, Sharon, Carniel, Elisa, Barnes, Carl, Quan, Dianna, Prall, Ryan, Lovell, Mark A, Mierau, Gary, Ruegg, Patsy, Mandava, Naresh, Bristow, Michael R, Towbin, Jeffrey A, Mestroni, Luisa

“…X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original…”
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Massive air embolism from continuous venovenous haemofiltration causing electromechanical dissociation in a cardiac surgical patient by Ku, Lisa, Weinberg, Laurence, Seevanayagam, Siven, Baldwin, Ian, Opdam, Helen, Doolan, Laurie

“…Venous air embolism is a rare but life-threatening complication of continuous venovenous haemofiltration. We report a case of massive venous air embolism…”
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Assessing somatic mutations in matched biospecimens from patients with serous ovarian cancer by Sanders, Brooke, Bitler, Benjamin, Ku, Lisa

“…To describe the genomic alterations present in three matched bio-specimens (tumor, ascites, plasma) of patients with serous ovarian cancer. Eighteen patients…”
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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine by Wiley, Laura K., Shortt, Jonathan A., Roberts, Emily R., Lowery, Jan, Kudron, Elizabeth, Lin, Meng, Mayer, David, Wilson, Melissa, Brunetti, Tonya M., Chavan, Sameer, Phang, Tzu L., Pozdeyev, Nikita, Lesny, Joseph, Wicks, Stephen J., Moore, Ethan T., Morgenstern, Joshua L., Roff, Alanna N., Shalowitz, Elise L., Stewart, Adrian, Williams, Cole, Edelmann, Michelle N., Hull, Madelyne, Patton, J. Tacker, Axell, Lisen, Ku, Lisa, Lee, Yee Ming, Jirikowic, Jean, Tanaka, Anna, Todd, Emily, White, Sarah, Peterson, Brett, Hearst, Emily, Zane, Richard, Greene, Casey S., Mathias, Rasika, Coors, Marilyn, Taylor, Matthew, Ghosh, Debashis, Kahn, Michael G., Brooks, Ian M., Aquilante, Christina L., Kao, David, Rafaels, Nicholas, Crooks, Kristy R., Hess, Steve, Barnes, Kathleen C., Gignoux, Christopher R.

“…Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records,…”
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SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia by MCNAIR, William P, KU, Lisa, TAYLOR, Matthew R. G, FAIN, Pam R, DAO, Dmi, WOLFEL, Eugene, MESTRONI, Luisa

“…We studied a large family affected by an autosomal dominant cardiac conduction disorder associated with sinus node dysfunction, arrhythmia, and right and…”
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Ophthalmic manifestations of Danon disease by Prall, F Ryan, Drack, Arlene, Taylor, Matthew, Ku, Lisa, Olson, Jeffrey L, Gregory, Darren, Mestroni, Luisa, Mandava, Naresh

“…To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. Retrospective case…”
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α-myosin heavy chain : A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy by CARNIEL, Elisa, TAYLOR, Matthew R. G, GRAW, Sharon L, FEIGER, Jennie, XIAO ZHONG ZHU, DAO, Dmi, FERGUSON, Debra A, BRISTOW, Michael R, MESTRONI, Luisa, SINAGRA, Gianfranco, DI LENARDA, Andrea, KU, Lisa, FAIN, Pamela R, BOUCEK, Mark M, CAVANAUGH, Mi Jean, MIOCIC, Snjezana, SLAVOV, Dobromir

“…Mutations in the beta-myosin heavy-chain (betaMyHC) gene cause hypertrophic (HCM) and dilated (DCM) forms of cardiomyopathy. In failing human hearts,…”
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Natural history of dilated cardiomyopathy due to lamin A/C gene mutations by Taylor, Matthew R.G, Fain, Pamela R, Sinagra, Gianfranco, Robinson, Misi L, Robertson, Alastair D, Carniel, Elisa, Di Lenarda, Andrea, Bohlmeyer, Teresa J, Ferguson, Debra A, Brodsky, Gary L, Boucek, Mark M, Lascor, Jean, Moss, Andrew C, Li, Wai-Lun P, Stetler, Gary L, Muntoni, Francesco, Bristow, Michael R, Mestroni, Luisa

“…We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy…”
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Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy by Taylor, Matthew R.G., Slavov, Dobromir, Gajewski, Andreas, Vlcek, Sylvia, Ku, Lisa, Fain, Pamela R., Carniel, Elisa, Di Lenarda, Andrea, Sinagra, Gianfranco, Boucek, Mark M., Cavanaugh, Jean, Graw, Sharon L., Ruegg, Patsy, Feiger, Jennie, Zhu, Xiao, Ferguson, Debra A., Bristow, Michael R., Gotzmann, Josef, Foisner, Roland, Mestroni, Luisa

“…Thymopoietin or TMPO (indicated by its alternative gene symbol, LAP2, in this work) has been proposed as a candidate disease gene for dilated cardiomyopathy…”
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Lost in transition: Challenges in the expanding field of adult genetics by Taylor, Matthew R.G., Edwards, Janice G., Ku, Lisa

“…It is increasingly clear that medical genetics has broad relevance in adult clinical medicine. More adult patients with genetic conditions are being…”
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The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk by Lowery, Jan T., Byers, Tim, Axell, Lisen, Ku, Lisa, Jacobellis, Jillian

“…To assess the impact of direct-to-consumer marketing for genetic testing among women of varying genetic risk for breast and ovarian cancer. Telephone surveys…”
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Longitudinal cephalometric changes of orthodontic patients evaluated long-term by Ku, Lisa

“…Posttreatment changes are further complicated by the slow continued growth that occurs after treatment into adulthood. The purpose of this study was to examine…”
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Genetic Counseling Practice Analysis by Hampel, Heather, Grubs, Robin E., Walton, Carol S., Nguyen, Emma, Breidenbach, Daniel H., Nettles, Steve, Corliss, Meagan, Fox, Stephanie, Hiraki, Susan, Ku, Lisa, Neufeld-Kaiser, Whitney, Riley, Bronson, Taylor, Jamie, Weik, LuAnn

“…The American Board of Genetic Counseling (ABGC) performed a genetic counseling practice analysis (PA) to determine the content of the certification…”
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Cardiology patient page. Familial dilated cardiomyopathy by Ku, Lisa, Feiger, Jennie, Taylor, Matthew, Mestroni, Luisa

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Familial Dilated Cardiomyopathy by Ku, Lisa, Feiger, Jennie, Taylor, Matthew, Mestroni, Luisa

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Lost in transition : Challenges in the expanding field of adult genetics: Toward evidence-based genetic counseling by TAYLOR, Matthew R. G, EDWARDS, Janice G, LISA KU

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