Search Results - "Skinner, S A"

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders by Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C Sreenath, Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T

“…Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and…”
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Clinical severity and quality of life in children and adolescents with Rett syndrome by LANE, J. B, LEE, H.-S, ANNESE, F, MCNAIR, L, GRAHAM, J, KHWAJA, O, BARNES, K, KRISCHER, J. P, SMITH, L. W, CHENG, P, PERCY, A. K, GLAZE, D. G, NEUL, J. L, MOTIL, K. J, BARRISH, J. O, SKINNER, S. A

“…The clinical features and genetics of Rett syndrome (RTT) have been well studied, but examination of quality of life (QOL) is limited. This study describes the…”
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11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity by Shinawi, Marwan, Sahoo, Trilochan, Maranda, Bruno, Skinner, S.A., Skinner, Cindy, Chinault, Craig, Zascavage, Roxanne, Peters, Sarika U., Patel, Ankita, Stevenson, Roger E., Beaudet, Arthur L.

“…Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical…”
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Motor evoked potential recovery with surgeon interventions and neurologic outcomes: A meta-analysis and structural causal model for spine deformity surgeries by Holdefer, R.N., Skinner, S.A.

“…•Recovery of motor evoked potential (MEP) deterioration depended on the intraoperative event associated with the alert.•A structural causal model predicted…”
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Non-steroidal anti-inflammatory drugs with activity against either cyclooxygenase 1 or cyclooxygenase 2 inhibit colorectal cancer in a DMH rodent model by inducing apoptosis and inhibiting cell proliferation by Brown, W A, Skinner, S A, Malcontenti-Wilson, C, Vogiagis, D, O'Brien, P E

“…BACKGROUND Standard non-steroidal anti-inflammatory drugs (NSAIDs) reduce the risk of colorectal cancer by 40–60% but the mechanism by which this occurs is…”
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Somatosensory and motor evoked potentials as biomarkers for post-operative neurological status by Holdefer, R.N, MacDonald, D.B, Skinner, S.A

“…Highlights • Intraoperative evoked potentials (EPs) are often used during surgery as surrogates for true clinical endpoints. • A three step framework recently…”
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IONM evidence: Putting the work and insight of Téllez et al. in context by Skinner, S.A, Holdefer, R.N

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An evaluation of motor evoked potential surrogate endpoints during intracranial vascular procedures by Holdefer, R.N, MacDonald, D.B, Guo, L, Skinner, S.A

“…Highlights • Motor evoked potentials (MEPs) during intracranial vascular surgeries are used as surrogate endpoints to predict the efficacy of interventions to…”
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Commentary: The value of intraoperative neurophysiological monitoring: evidence, equipoise and outcomes by Holdefer, R. N., Skinner, S. A.

“…The use of intraoperative neurophysiological monitoring (IONM) has grown despite an absence of randomized controlled trials that might unequivocally…”
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities by Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E

“…Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes;…”
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Inhibition of β-catenin translocation in rodent colorectal tumors: A novel explanation for the protective effect of nonsteroidal antiinflammatory drugs in colorectal cancer by BROWN, Wendy A, SKINNER, Stewart A, VOGIAGIS, Daphne, O'BRIEN, Paul E

“…In a rodent colorectal cancer model, nonsteroidal antiinflammatory drugs reduce tumor mass by increasing the rate of tumor cell apoptosis and decreasing…”
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Microvascular structure of benign and malignant tumors of the colon in humans by SKINNER, S. A, FRYDMAN, G. M, O'BRIEN, P. E

“…Studies of experimental tumors in rodents indicate that there are morphological abnormalities of the tumor microcirculation compared to normal tissues. The aim…”
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Microvascular architecture of experimental colon tumors in the rat by SKINNER, S. A, TUTTON, P. J. M, O'BRIEN, P. E

“…Tumor cell proliferation is dependent upon concurrent growth of a supporting vasculature. This study aims to characterize the structural features of the…”
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The Microvascular Structure of the Normal Colon in Rats and Humans by Skinner, Stewart A., O'Brien, Paul E.

“…The colonic microcirculation may be expected to have a central role in the absorptive, secretory, and protective functions of the colon. To characterize the…”
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Sulindac inhibits colorectal tumour growth, but not prostaglandin synthesis in the rat by CHARALAMBOUS, D, SKINNER, S. A, O'BRIEN, P. E

“…We have determined the dose-response relationship between sulindac administration and inhibition of tumour growth in the rat. The effect of tumour-inhibiting…”
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Treatment of anal fissure with glyceryl trinitrate in patients referred for surgical management by Skinner, S. A., Polglase, A. L., Le, C. T., Winnett, J. D.

“…Background: A number of recent studies indicate that anal fissure may be treated by applying glyceryl trinitrate (GTN) ointment. The present study aims to…”
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Acampomelic campomelic dysplasia by MACPHERSON, R. I, SKINNER, S. A, DONNENFELD, A. E

“…Two newborn infants with respiratory distress showed all the clinical and radiologic stigmata of the campomelic dysplasia except campomelia itself…”
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'Giant of a former age': a final note on James Shergold Boone? by Skinner, S.A

“…Skinner contends that James Shergold Boone, an ephemeral literary celebrity of the early 19th century, was born in 1798, one year earlier than has always been…”
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Autism and maternally derived aberrations of chromosome 15q by Schroer, Richard J., Phelan, Mary C., Michaelis, Ron C., Crawford, Eric C., Skinner, Steven A., Cuccaro, Michael, Simensen, Richard J., Bishop, Janet, Skinner, Cindy, Fender, Don, Stevenson, Roger E.

“…Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and…”
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Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21 by Phelan, M C, Saul, R A, Gailey, Jr, T A, Skinner, S A

“…Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We…”
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