Search Results - "Forster‐Gibson, Cynthia"

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions by Rosenfeld, Jill A., Crolla, John A., Tomkins, Susan, Bader, Patricia, Morrow, Bernice, Gorski, Jerome, Troxell, Robin, Forster-Gibson, Cynthia, Cilliers, Deirdre, Hislop, R. Gordon, Lamb, Allen, Torchia, Beth, Ballif, Blake C., Shaffer, Lisa G.

“…Monosomy 1p36 is the most common terminal deletion syndrome seen in humans, occurring in ∼1 in 5,000 live births. Common features include mental retardation,…”
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The DLX1and DLX2 genes and susceptibility to autism spectrum disorders by XUDONG LIU, NOVOSEDLIK, Natalia, WANG, Ami, HUDSON, Melissa L, COHEN, Ira L, CHUDLEY, Albert E, FORSTER-GIBSON, Cynthia J, LEWIS, Suzanne M. E, HOLDEN, Jeanette J. A

“…An imbalance between excitation and inhibition in the cerebral cortex has been suggested as a possible etiology of autism. The DLX genes encode…”
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Behaviour changes in an adult with Down syndrome by Forster-Gibson, Cynthia J

“…A case study of a 43-year-old man who has Down syndrome, is presented. The patient has a 2-year history of behaviour changes, paranoia, and auditory…”
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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data by Hartley, Taila, Soubry, Élisabeth, Acker, Meryl, Osmond, Matthew, Couse, Madeline, Gillespie, Meredith K., Ito, Yoko, Marshall, Aren E., Lemire, Gabrielle, Huang, Lijia, Chisholm, Caitlin, Eaton, Alison J., Price, E. Magda, Dowling, James J., Ramani, Arun K., Mendoza‐Londono, Roberto, Costain, Gregory, Axford, Michelle M., Szuto, Anna, McNiven, Vanda, Damseh, Nadirah, Jobling, Rebekah, Kock, Leanne, Mojarad, Bahareh A., Young, Ted, Shao, Zhuo, Hayeems, Robin Z., Graham, Ian D., Tarnopolsky, Mark, Brady, Lauren, Armour, Christine M., Geraghty, Michael, Richer, Julie, Sawyer, Sarah, Lines, Matthew, Mercimek‐Andrews, Saadet, Carter, Melissa T., Graham, Gail, Kannu, Peter, Lazier, Joanna, Li, Chumei, Aul, Ritu B., Balci, Tugce B., Dlamini, Nomazulu, Badalato, Lauren, Guerin, Andrea, Walia, Jagdeep, Chitayat, David, Cohn, Ronald, Faghfoury, Hanna, Forster‐Gibson, Cynthia, Gonorazky, Hernan, Grunebaum, Eyal, Inbar‐Feigenberg, Michal, Karp, Natalya, Morel, Chantal, Rusnak, Alison, Sondheimer, Neal, Warman‐Chardon, Jodi, Bhola, Priya T., Bourque, Danielle K., Chacon, Inara J., Chad, Lauren, Chakraborty, Pranesh, Chong, Karen, Doja, Asif, Goh, Elaine Suk‐Ying, Saleh, Maha, Potter, Beth K., Marshall, Christian R., Dyment, David A., Kernohan, Kristin, Boycott, Kym M.

“…We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In…”
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer by Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A, Agre, Katherine E, Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L, Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A, Wagner, Monisa D, Hale, Rebecca J, Esber, Natacha, Riley, Alan F, Solomon, Benjamin D, Cho, Megan T, McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K, Mendelsohn, Bryce A, Porter, Hillary M, Lanpher, Brendan C, Lewis, Andrea M, Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M, Yang, Xiang-Jiao

“…Lysine acetyltransferase 6A (KAT6A) and its paralog KAT6B form stoichiometric complexes with bromodomain- and PHD finger-containing protein 1 (BRPF1) for…”
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Consensus guidelines for primary health care of adults with developmental disabilities by Sullivan, William F, Heng, John, Cameron, Donna, Lunsky, Yona, Cheetham, Tom, Hennen, Brian, Bradley, Elspeth A, Berg, Joseph M, Korossy, Marika, Forster-Gibson, Cynthia, Gitta, Maria, Stavrakaki, Chrissoula, McCreary, Bruce, Swift, Irene

“…To develop practical Canadian guidelines for primary health care providers based on the best available evidence for addressing health issues in adults with…”
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Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human by Zhang, Qi, Forster-Gibson, Cynthia, Bercovici, Eduard, Bernardo, Alexandra, Ding, Fei, Shen, Wangzhen, Langer, Katherine, Rex, Tonia, Kang, Jing-Qiong

“…GABAA receptor subunit gene (GABR) mutations are significant causes of epilepsy, including syndromic epilepsy. This report for the first time, describes…”
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Circles of care for people with intellectual and developmental disabilities: Communication, collaboration, and coordination by McNeil, Karen, Gemmill, Meg, Abells, Dara, Sacks, Samantha, Broda, Terry, Morris, Catherine R, Forster-Gibson, Cynthia

“…To review health information exchange (HIE) processes that affect the health of people with intellectual and developmental disabilities (IDD) and to suggest…”
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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) by Lebo, Matthew S, Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D, Waye, John S, McCready, Elizabeth, Parboosingh, Jillian S, Lamont, Ryan E, Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young, Sean, Karsan, Aly, Charames, George S, Agatep, Ronald, Spriggs, Elizabeth L, Chisholm, Caitlin, Vasli, Nasim, Daoud, Hussein, Jarinova, Olga, Tomaszewski, Robert, Hume, Stacey, Taylor, Sherryl, Akbari, Mohammad R, Lerner-Ellis, Jordan

“…Purpose The purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve…”
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Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders by Malenfant, Patrick, Liu, Xudong, Hudson, Melissa L., Qiao, Ying, Hrynchak, Monica, Riendeau, Noémie, Hildebrand, M. Jeannette, Cohen, Ira L., Chudley, Albert E., Forster-Gibson, Cynthia, Mickelson, Elizabeth C. R., Rajcan-Separovic, Evica, Lewis, M. E. Suzanne, Holden, Jeanette J. A.

“…Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in…”
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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish by Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

“…We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in ( ). MAP4K4 has…”
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2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders by XUDONG LIU, MALENFANT, Patrick, FORSTER-GIBSON, Cynthia, RAJCAN-SEPAROVIC, Evica, SUZANNE LEWIS, M. E, HOLDEN, Jeanette Ja, REESOR, Chelsea, LEE, Alana, HUDSON, Melissa L, HARVARD, Chansonette, YING QIAO, PERSICO, Antonio M, COHEN, Ira L, CHUDLEY, Albert E

“…Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at…”
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Refinement of Causative Genes in Monosom 1p36 Through Clinical and Molecular Cytogenetic Characterization of Small Interstitial Deletions by ROSENFELD, Jill A, CROLLA, John A, LAMB, Allen, TORCHIA, Beth, BALLIF, Blake C, SHAFFER, Lisa G, TOMKINS, Susan, BADER, Patricia, MORROW, Bernice, GORSKI, Jerome, TROXELL, Robin, FORSTER-GIBSON, Cynthia, CILLIERS, Deirdre, HISLOP, R. Gordon

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The aromatic hydrocarbon receptor for 2,3,7,8-tetrachlorodibenzo-p-dioxin and variable levels of induced aryl hydrocarbon hydroxylase activity in clones of mouse hepatoma cells by Forster-Gibson, C J, Fei, Y X, Dufresne, M J

“…Induction of aryl hydrocarbon hydroxylase (AHH) activity was studied in clones and subclones of mouse hepatoma (Hepa-lcl) cells. When maximally induced, one…”
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An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis by Forster-Gibson, C J, Mulligan, L M, Simpson, N E, White, B N, Holden, J J

“…One hundred and three individuals in 11 unrelated families with the fragile-X [fra(X)] syndrome were tested for polymorphisms identified by probes flanking the…”
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A linkage study of primary affective disorder by Waters, B, Sengar, D, Marchenko, I, Rock, G, Lapierre, Y, Forster-Gibson, C J, Simpson, N E

“…Marker loci in 113 members of nine unrelated multiplex families identified by a bipolar proband were tested for linkages with primary affective disorder…”
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