Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Joan Knoll"'
Autor:
Jacqueline S. Dron, Jian Wang, Amanda J. Berberich, Michael A. Iacocca, Henian Cao, Ping Yang, Joan Knoll, Karine Tremblay, Diane Brisson, Christian Netzer, Ioanna Gouni-Berthold, Daniel Gaudet, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 8, Pp 1529-1535 (2018)
Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extreme levels of HDL cholesterol. We evaluated targeted, next-generation sequencing data from patients w
Externí odkaz:
https://doaj.org/article/9cfb22c50af84d239cdf6c4e4be0b0b6
Autor:
Heidi L. Rehm, Matthew Lebo, Melanie Care, Stephen W. Scherer, Gary Bader, Tanya Nelson, Joan Knoll, Richard Wintle, Philippe Campeau
Publikováno v:
Journal of Medical Genetics
Background The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics
Autor:
Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D. Speevak, John S. Waye, Elizabeth McCready, Jillian S. Parboosingh, Ryan E. Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S. Charames, Ronald Agatep, Elizabeth L. Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R. Akbari, Jordan Lerner-Ellis, Ron Agatep, Peter Ainsworth, Melyssa Aronson, Raveen Basran, Andre Blavier, Andrea Blumenthal, Kym Boycott, Michael Brudno, Kathleen Buckley, Jodi Campbell, Philippe M. Campeau, Melanie Care, Nancy Carson, Ronald Carter, George Charames, David Chitayat, George Chong, Edmond Chouinard, Kenneth J. Craddock, Rod Docking, Andrea Eisen, Hanna Faghfoury, Sandra Farrell, Bridget Fernandez, Marc Fiume, Cynthia Forster-Gibson, Jan Friedman, William Foulkes, Peter Goodhand, Jessica Gu, Robert Hegele, Spring Holter, Sheri Horsburgh, Lauren Hughes, Franny Jewett, Anne Junker, Sam Khalouei, Joan Knoll, Elena Kolomeitz, Bartha Knoppers, Ryan Lamont, Matthew Lebo, Georges Maire, Christian Marshall, Grant Mitchell, Michael J Moorhouse, Chantal Morel, Tanya Nelson, Abdul Noor, Brian O'Connor, Darren O'Rielly, Francis Ouellette, Jillian Parboosingh, Hilary Racher, Peter Ray, Heidi Rehm, Christie Riddell, Jean-Baptiste Riviere, David S. Rosenblatt, Guy Rouleau, Andrea Ruchon, Peter Sabatini, Bekim Sadikovic, Kara Semotiuk, Stephen W. Scherer, Cheryl Shuman, Josh Silver, Katherine Siminovitch, Lesley Solomon-Izsak, Jean-Francois Soucy, Marsha Speevak, James Stavropoulos, Lincoln Stein, Rhonda Tannenbaum, Deborah Terespolsky, Richard F. Wintle, Beatrix Wong, Nora Wong, Marina Wang, Nicholas Watkins, Shana White, Michael O. Woods, Philip Wyatt
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(3)
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1
Publikováno v:
Scopus-Elsevier
Genetic imprinting has been implicated in the etiology of two clinically distinct but cytogenetically indistinguishable disorders--Angelman syndrome (AS) and Prader-Willi syndrome (PWS). This hypothesis is derived from two lines of evidence. First, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f2e3913e8ddb93ba642f7c0128a8e2e3
https://europepmc.org/articles/PMC1682763/
https://europepmc.org/articles/PMC1682763/
Autor:
Joan Knoll
Publikováno v:
Molecular and Cellular Biology. 19:3930-3930
Autor:
Albert E. Chudley, Joan Knoll, John W. Gerrard, Lawrence Shepel, Ellen McGahey, Jo Anderson, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 14:699-712
Members of eight Saskatchewan families with fragile (X) X-linked mental retardation were studied in an attempt to relate frequency to age and intelligence. The mean IQ of 37 affected men was 35 (range 10–66). The mean IQ of 32 carriers was 88 (rang
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9fe62e7b06094b66f9734332908992c7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0030895262&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0030895262&partnerID=MN8TOARS
Autor:
Wagstaff, J., Joan Knoll, Fleming, J., Kirkness, E. F., Martin-Gallardo, A., Greenberg, F., Graham Jr, J. M., Menninger, J., Ward, D., Venter, J. C., Lalande, M.
Publikováno v:
Scopus-Elsevier
Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct genetic disorders, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). The deleted regions in the two syndromes, defined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e3d9e823ea9066a1a0cd092510ed4d4b
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026338111&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026338111&partnerID=MN8TOARS