Search Results - "Gowans, Gordon C."

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 by Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A

“…We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based…”
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication by Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

“…Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy…”
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Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis by Thapa, Monika, Asamoah, Alexander, Gowans, Gordon C., Platky, Kathryn C., Barch, Margaret J., Mouchrani, Patricia, Rajakaruna, Cecilia, Hersh, Joseph H.

“…Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has…”
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Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome by Pani, Ariel M, Hobart, Holly H, Morris, Colleen A, Mervis, Carolyn B, Bray-Ward, Patricia, Kimberley, Kendra W, Rios, Cecilia M, Clark, Robin C, Gulbronson, Maricela D, Gowans, Gordon C, Gregg, Ronald G

“…Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions…”
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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants by Girirajan, Santhosh, Rosenfeld, Jill A, Coe, Bradley P, Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A, McConnell, Juliann S, Angle, Brad, Meschino, Wendy S, Nezarati, Marjan M, Asamoah, Alexander, Jackson, Kelly E, Gowans, Gordon C, Martin, Judith A, Carmany, Erin P, Stockton, David W, Schnur, Rhonda E, Penney, Lynette S, Martin, Donna M, Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M, Escobar, Luis F, El-Khechen, Dima, Johnson, Kisha D, Lebel, Robert R, Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K, Spence, J. Edward, Martin, Laura S, Clericuzio, Carol, Ballif, Blake C, Shaffer, Lisa G, Eichler, Evan E

“…Most chromosomal deletions and duplications (copy-number variants) that are associated with neurodevelopmental disorders are known to result in a wide…”
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A Two-Month-Old Infant with Respiratory Distress and Left Ventricular Hypertrophy by Kayrouz, Ilana L., MD, Das, Bibhuti B., MD, Gowans, Gordon C., MD, Johnsrude, Christopher L., MD

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities by Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.

“…Segmental duplications, which comprise ∼5%–10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through…”
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Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report by Haj, Roland, Jackson, Kelly, Torchia, Beth A, Shaffer, Lisa G, Bejjani, Bassem A, Gowans, Gordon C, Ruff, Michael W

“…Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs…”
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NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype by Moles, Kimberly J., Gowans, Gordon C., Gedela, Satyanarayana, Beversdorf, David, Yu, Arthur, Seaver, Laurie H., Schultz, Roger A., Rosenfeld, Jill A., Torchia, Beth S., Shaffer, Lisa G.

“…Purpose: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 ( NF1 ) gene at 17q11.2. Approximately 5%…”
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Neurotransmitter abnormalities and response to supplementation in SPG11 by Vanderver, Adeline, Tonduti, Davide, Auerbach, Sarah, Schmidt, Johanna L., Parikh, Sumit, Gowans, Gordon C., Jackson, Kelly E., Brock, Pamela L., Patterson, Marc, Nehrebecky, Michelle, Godfrey, Rena, Zein, Wadih M., Gahl, William, Toro, Camilo

“…Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and…”
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay by Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G

“…Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also…”
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Effects of cocaine and d-amphetamine on sustained and selective attention in rats by Grilly, D M, Gowans, G C, McCann, D S, Grogan, T W

“…The effects of cocaine and d-amphetamine were compared in two attention-loading tasks. Cued by the position of a light, rats were food-reinforced for pressing…”
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Comparison of the Effects of Morphine and Immobilization Stress on Discrimination Performance of Rats by Grilly, David M, Gowans, Gordon C

“…The effects of morphine and those of immobilization stress (IMS) on performance of rats in discrete-trial, two-choice discrimination tasks were compared. In…”
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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay by Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.

“…We report the identification of a recurrent 520-kbp 16p12.1 microdeletion significantly associated with childhood developmental delay. The microdeletion was…”
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Effects of naltrexone, andd-amphetamine, and their interaction on the stimulus control of choice behavior of rats by Grilly, David M., Gowans, Gordon C.

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Effects of naltrexone, and d-amphetamine, and their interaction on the stimulus control of choice behavior of rats by GRILLY, D. M, GOWANS, G. C

“…The hypothesis that endogenous opioid peptides modulate attentional processes was tested. The effects of the opioid antagonist naltrexone (NALT), d-amphetamine…”
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Acute morphine dependence: effects observed in shock and light discrimination tasks by GRILLY, D. M, GOWANS, G. C

“…Alterations in shock discrimination accuracy in the rat, indicative of hyperalgesia, have been noted 1-3 days following a single injection of morphine. To…”
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