Search Results - "Swoboda, K"

Concurrent MEK2 Mutation and BRAF Amplification Confer Resistance to BRAF and MEK Inhibitors in Melanoma by Villanueva, Jessie, Infante, Jeffrey R., Krepler, Clemens, Reyes-Uribe, Patricia, Samanta, Minu, Chen, Hsin-Yi, Li, Bin, Swoboda, Rolf K., Wilson, Melissa, Vultur, Adina, Fukunaba-Kalabis, Mizuho, Wubbenhorst, Bradley, Chen, Thomas Y., Liu, Qin, Sproesser, Katrin, DeMarini, Douglas J., Gilmer, Tona M., Martin, Anne-Marie, Marmorstein, Ronen, Schultz, David C., Speicher, David W., Karakousis, Giorgos C., Xu, Wei, Amaravadi, Ravi K., Xu, Xiaowei, Schuchter, Lynn M., Herlyn, Meenhard, Nathanson, Katherine L.

“…Although BRAF and MEK inhibitors have proven clinical benefits in melanoma, most patients develop resistance. We report a de novo MEK2-Q60P mutation and BRAF…”
Get full text

The association between electronic health information usage and patient-centered communication: a cross sectional analysis from the Health Information National Trends Survey (HINTS) by Knowles, Heidi, Swoboda, Thomas K, Sandlin, Devin, Huggins, Charles, Takami, Trevor, Johnson, Garrett, Wang, Hao

“…Patient-provider communication can be assessed by the patient-centered communication (PCC) score. With rapid development of electronic health (eHealth)…”
Get full text

An integrated expression atlas of miRNAs and their promoters in human and mouse by de Rie, Derek, Abugessaisa, Imad, Alam, Tanvir, Arner, Erik, Arner, Peter, Ashoor, Haitham, Åström, Gaby, Babina, Magda, Bertin, Nicolas, Burroughs, A Maxwell, Carlisle, Ailsa J, Daub, Carsten O, Detmar, Michael, Deviatiiarov, Ruslan, Fort, Alexandre, Gebhard, Claudia, Goldowitz, Daniel, Guhl, Sven, Ha, Thomas J, Harshbarger, Jayson, Hasegawa, Akira, Hashimoto, Kosuke, Herlyn, Meenhard, Heutink, Peter, Hitchens, Kelly J, Hon, Chung Chau, Huang, Edward, Ishizu, Yuri, Kai, Chieko, Kasukawa, Takeya, Klinken, Peter, Lassmann, Timo, Lecellier, Charles-Henri, Lee, Weonju, Lizio, Marina, Makeev, Vsevolod, Mathelier, Anthony, Medvedeva, Yulia A, Mejhert, Niklas, Mungall, Christopher J, Noma, Shohei, Ohshima, Mitsuhiro, Okada-Hatakeyama, Mariko, Persson, Helena, Rizzu, Patrizia, Roudnicky, Filip, Sætrom, Pål, Sato, Hiroki, Severin, Jessica, Shin, Jay W, Swoboda, Rolf K, Tarui, Hiroshi, Toyoda, Hiroo, Vitting-Seerup, Kristoffer, Winteringham, Louise, Yamaguchi, Yoko, Yasuzawa, Kayoko, Yoneda, Misako, Yumoto, Noriko, Zabierowski, Susan, Zhang, Peter G, Wells, Christine A, Summers, Kim M, Kawaji, Hideya, Sandelin, Albin, Rehli, Michael, Hayashizaki, Yoshihide, Carninci, Piero, Forrest, Alistair R R, de Hoon, Michiel J L

“…An atlas of microRNA expression patterns and regulators is produced by deep sequencing of short RNAs in human and mouse cells. MicroRNAs (miRNAs) are short…”
Get full text

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria by BRUNO, M. K, HALLETT, M, SOONG, B.-W, ASHIZAWA, T, JANKOVIC, J, RENNER, D, FU, Y.-H, PTACEK, L. J, GWINN-HARDY, K, SORENSEN, B, CONSIDINE, E, TUCKER, S, LYNCH, D. R, MATHEWS, K. D, SWOBODA, K. J, HARRIS, J

“…Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by short episodes of involuntary movement attacks triggered by sudden voluntary…”
Get full text

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability by Glanzman, A.M, Mazzone, E, Main, M, Pelliccioni, M, Wood, J, Swoboda, K.J, Scott, C, Pane, M, Messina, S, Bertini, E, Mercuri, E, Finkel, R.S

“…Abstract The motor skills of patients with spinal muscular atrophy, type I (SMA-I) are very limited. It is difficult to quantify the motor abilities of these…”
Get full text

Techniques for teaching electrocardiogram interpretation: self-directed learning is less effective than a workshop or lecture by Mahler, Simon A, Wolcott, Christopher J, Swoboda, Thomas K, Wang, Hao, Arnold, Thomas C

“…Medical Education 2011: 45: 347–353 Context  Teaching 12‐lead electrocardiogram (ECG) interpretation to students and residents is a challenge for medical…”
Get full text

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease by Desai, V, Donsante, A, Swoboda, KJ, Martensen, M, Thompson, J, Kaler, SG

“…Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favorably skewed X‐inactivation accounts for neurological sparing in female carriers of…”
Get full text

Assessing Interpersonal and Communication Skills in Emergency Medicine by Chan, Teresa M., Wallner, Clare, Swoboda, Thomas K., Leone, Katrina A., Kessler, Chad

“…Interpersonal and communication skills (ICS) are a key component of several competency‐based schemata and key competency in the set of six Accreditation…”
Get full text

Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy by WATTANASIRICHAIGOON, D, SWOBODA, K. J, TAKADA, F, TONG, H.-Q, LIP, V, IANNACCONE, S. T, WALLGREN-PETTERSSON, C, LAING, N. G, BEGGS, A. H

“…The alpha-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified…”
Get full text

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy by Lampe, A K, Dunn, D M, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S H, Marie, S K, Chu, M-L, Swoboda, K, Muntoni, F, Bonnemann, C G, Flanigan, K M, Bushby, K M D, Weiss, R B

“…Introduction: Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy…”
Get full text

The Impact of Emergency Department Overcrowding on Resident Education by Mahler, Simon A., MD, McCartney, Jeannie R., MD, Swoboda, Thomas K., MD, Yorek, Lauren, MD, Arnold, Thomas C., MD

“…Abstract Background Few studies have evaluated the effect of Emergency Department (ED) overcrowding on resident education. Objectives To determine the impact…”
Get full text

Using natural language processing in emergency medicine health service research: A systematic review and meta‐analysis by Wang, Hao, Alanis, Naomi, Haygood, Laura, Swoboda, Thomas K., Hoot, Nathan, Phillips, Daniel, Knowles, Heidi, Stinson, Sara Ann, Mehta, Prachi, Sambamoorthi, Usha

“…Objectives Natural language processing (NLP) represents one of the adjunct technologies within artificial intelligence and machine learning, creating structure…”
Get full text

G.O.18 by Darras, B, Chiriboga, C, Swoboda, K, Iannaccone, S, Montes, J, Castro, D, Holuba, N, Raush, N, Visyak, N, Dunaway, S, Trussell, D, Pasternak, A, Neilson, L, Vivo, D. De, McGuire, D, Norris, D, Alexander, K, Bennett, C.F, Bishop, K

“…This open-label, multiple ascending-dose study was conducted to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of…”
Get full text

Dedicated Emergency Department Ultrasound Rotation Improves Residents’ Ultrasound Knowledge and Interpretation Skills by Mahler, Simon A., MD, Swoboda, Thomas K., MD, Wang, Hao, MD, PhD, Arnold, Thomas C., MD

“…Abstract Background Graduates of Emergency Medicine (EM) residency training programs are expected to be proficient in ultrasound. However, best practices for…”
Get full text

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA by Simard, L R, Bélanger, M-C, Morissette, S, Wride, M, Prior, T W, Swoboda, K J

“…To determine whether survival motor neuron (SMN) expression was stable over time. We developed a multiplex real-time reverse transcriptase (RT)-PCR assay to…”
Get full text

O.9 First-in-human phase I study to assess safety, tolerability and dose for intrathecal injection of ISIS-SMNRx in SMA patients by Swoboda, K, Chiriboga, C, Darras, B, Iannaccone, S, Montes, J, Rausch, N, Parad, R, Johnson, S, Vivo, D. De, Norris, D, Alexander, K, Bennet, F.C, Bishop, K

“…ISIS-SMNRx is an antisense oligonucleotide designed to enhance inclusion of SMN2 exon 7 mRNA and increase the amount of functional SMN protein. A…”
Get full text

P1.12 Frequency of genomic deletion mutations in collagen VI myopathies by Butterfield, R.J, Swoboda, K, Flanigan, K.M, Bonnemann, C.G, Weiss, R.B

Get full text

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands by Bertini, E, Burghes, A, Bushby, K, Estournet-Mathiaud, B, Finkel, R S, Hughes, R A C, Iannaccone, S T, Melki, J, Mercuri, E, Muntoni, F, Voit, T, Reitter, B, Swoboda, K J, Tiziano, D, Tizzano, E, Topaloglu, H, Wirth, B, Zerres, K

Get full text

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies by Swoboda, K J, Soong, B, McKenna, C, Brunt, E R, Litt, M, Bale, Jr, J F, Ashizawa, T, Bennett, L B, Bowcock, A M, Roach, E S, Gerson, D, Matsuura, T, Heydemann, P T, Nespeca, M P, Jankovic, J, Leppert, M, Ptácek, L J

“…To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions,…”
Get full text

Graduate Medical Education Reforms Need to Better Serve Program Directors by Swoboda, Thomas K

Get full text