Search Results - "Brautbar, A"

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems by Rasmussen-Torvik, L J, Stallings, S C, Gordon, A S, Almoguera, B, Basford, M A, Bielinski, S J, Brautbar, A, Brilliant, M H, Carrell, D S, Connolly, J J, Crosslin, D R, Doheny, K F, Gallego, C J, Gottesman, O, Kim, D S, Leppig, K A, Li, R, Lin, S, Manzi, S, Mejia, A R, Pacheco, J A, Pan, V, Pathak, J, Perry, C L, Peterson, J F, Prows, C A, Ralston, J, Rasmussen, L V, Ritchie, M D, Sadhasivam, S, Scott, S A, Smith, M, Vega, A, Vinks, A A, Volpi, S, Wolf, W A, Bottinger, E, Chisholm, R L, Chute, C G, Haines, J L, Harley, J B, Keating, B, Holm, I A, Kullo, I J, Jarvik, G P, Larson, E B, Manolio, T, McCarty, C A, Nickerson, D A, Scherer, S E, Williams, M S, Roden, D M, Denny, J C

“…We describe here the design and initial implementation of the eMERGE‐PGx project. eMERGE‐PGx, a partnership of the Electronic Medical Records and Genomics…”
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Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies by Sarwar, Nadeem, Sandhu, Manjinder S, Ricketts, Sally L, Butterworth, Adam S, Di Angelantonio, Emanuele, Boekholdt, S Matthijs, Ouwehand, Willem, Watkins, Hugh, Samani, Nilesh J, Saleheen, Danish, Lawlor, Debbie, Reilly, Muredach P, Hingorani, Aroon D, Talmud, Philippa J, Danesh, John

“…Summary Background Whether triglyceride-mediated pathways are causally relevant to coronary heart disease is uncertain. We studied a genetic variant that…”
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Fibromyalgia and Gaucher's disease by Brautbar, A., Elstein, D., Pines, B., Krienen, N., Hemmer, J., Buskila, D., Zimran, A.

“…Background: Patients with symptomatic Gaucher's disease sometimes have non-specific symptoms (such as general malaise with widespread musculoskeletal pains)…”
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes by Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

“…Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human…”
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Effect of enzyme replacement therapy on gammopathies in Gaucher disease by Brautbar, Ariel, Elstein, Deborah, Pines, Guy, Abrahamov, Aya, Zimran, Ari

“…Chronic antigenic stimulation by the abnormal lipid storage has been postulated to be the mechanism underlying anecdotal reports of monoclonal and polyclonal…”
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PS3-2: Informatics Challenges to Implement Pharmacogenetics to Clinical Practice by Zhou, Z., He, M., Brilliant, M., Brautbar, A., Miller, A., Weichelt, B., Lin, S.

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Menetrierʼs disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease by Brautbar, Ariel, Paz, Julian, Hadas-Halpern, Irith, Reinus, Constantin, Rosenmann, Eliezer, Zimran, Ari, Elstein, Deborah

“…OBJECTIVESTo describe a unique case of a young man with Gaucher disease who was diagnosed with Menetrierʼs disease. BACKGROUNDAfter an acute episode of severe…”
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The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation by Brautbar, Ariel, Elstein, Deborah, Abrahamov, Aya, Zeigler, Marsha, Chicco, Gaya, Beutler, Ernest, Scott, C.Ronald, Zimran, Ari

“…Gaucher disease is the most common sphingolipid storage disease but genotype only broadly predicts phenotype. The 1604G→A (1604A;R496H) mutation has been…”
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