Search Results - "Robbins, C M"

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism‐jaw tumour syndrome by BRADLEY, K. J., HOBBS, M. R., BULEY, I. D., CARPTEN, J. D., CAVACO, B. M., FARES, J. E., LAIDLER, P., MANEK, S., ROBBINS, C. M., SALTI, I. S., THOMPSON, N. W., JACKSON, C. E., THAKKER, R. V.

“… The hyperparathyroidism‐jaw tumour (HPT‐JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumours, which are frequently carcinomas,…”
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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome by Collins, Francis S, Eriksson, Maria, Brown, W. Ted, Gordon, Leslie B, Glynn, Michael W, Singer, Joel, Scott, Laura, Erdos, Michael R, Robbins, Christiane M, Moses, Tracy Y, Berglund, Peter, Dutra, Amalia, Pak, Evgenia, Durkin, Sandra, Csoka, Antonei B, Boehnke, Michael, Glover, Thomas W

“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present…”
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Chronic oxidative stress and radiation-induced late normal tissue injury: a review by Robbins, M. E. C., Zhao, W.

“…Purpose: It is proposed that the development and progression of radiation-induced late effects are driven, in part, by chronic oxidative stress. This…”
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Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays by Collins, Francis S, Hacia, Joseph G, Fan, Jian-Bing, Ryder, Oliver, Jin, Li, Edgemon, Keith, Ghandour, Ghassan, Mayer, R. Aeryn, Sun, Bryan, Hsie, Linda, Robbins, Christiane M, Brody, Lawrence C, Wang, David, Lander, Eric S, Lipshutz, Robert, Fodor, Stephen P.A

“…Here we report the application of high-density oligonucleotide array (DNA chip)-based analysis to determine the distant history of single nucleotide…”
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Black guillemot ecology in relation to tidal stream energy generation: An evaluation of current knowledge and information gaps by Johnston, Daniel T., Furness, Robert W., Robbins, Alexandra M.C., Tyler, Glen, Taggart, Mark A., Masden, Elizabeth A.

“…The black guillemot Cepphus grylle has been identified as a species likely to interact with marine renewable energy devices, specifically tidal turbines, with…”
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Spark plasma sintered bismuth telluride-based thermoelectric materials incorporating dispersed boron carbide by Williams, H.R., Ambrosi, R.M., Chen, K., Friedman, U., Ning, H., Reece, M.J., Robbins, M.C., Simpson, K., Stephenson, K.

“…[Display omitted] •Nano-B4C reinforced Bi0.5Sb1.5Te3 p-type thermoelectric produced by SPS.•Addition of B4C up to 0.2vol% to SPS’d material has little effect…”
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Effects of a direct-fed yeast culture on enteric microbial populations, fermentation acids, and performance of weanling pigs by Mathew, A.G, Chattin, S.E, Robbins, C.M, Golden, D.A

“…In three replicate trials, a total of 36 pigs that had been cannulated at the terminal ileum were used to determine the effects of a Saccharomyces cerevisiae…”
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An IL‐2 response element in the human IL‐2 receptor alpha chain promoter is a composite element that binds Stat5, Elf‐1, HMG‐I(Y) and a GATA family protein by John, S., Robbins, C. M., Leonard, W. J.

“…Expression of the human interleukin‐2 (IL‐2) receptor alpha chain gene is potently upregulated by its own ligand, IL‐2. In this study, we characterize an…”
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Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 by Appukuttan, Binoy, Gillanders, Elizabeth, Juo, Suh-Hang, Freas-Lutz, Diana, Ott, Sandra, Sood, Raman, Van Auken, Ann, Bailey-Wilson, Joan, Wang, Xiaoguang, Patel, Reshma J., Robbins, Christiane M., Chung, Mina, Annett, Geralyn, Weinberg, Kenneth, Borchert, Mark S., Trent, Jeffrey M., Brownstein, Michael J., Stout, J. Timothy

“…Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally,…”
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Evolutionary sequence comparisons using high-density oligonucleotide arrays by Hacia, Joseph G, Makalowski, Wojciech, Edgemon, Keith, Erdos, Michael R, Robbins, Christiane M, Fodor, Stephen P. A, Brody, Lawrence C, Collins, Francis S

“…We explored the utility of high-density oligonucleotide arrays (DNA chips) for obtaining sequence information from homologous genes in closely related species…”
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High frequency of BRAF mutations in nevi by Meltzer, Paul S, Pollock, Pamela M, Harper, Ursula L, Hansen, Katherine S, Yudt, Laura M, Stark, Mitchell, Robbins, Christiane M, Moses, Tracy Y, Hostetter, Galen, Wagner, Urs, Kakareka, John, Salem, Ghadi, Pohida, Tom, Heenan, Peter, Duray, Paul, Kallioniemi, Olli, Hayward, Nicholas K, Trent, Jeffrey M

“…To evaluate the timing of mutations in BRAF (v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on…”
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Somatic and Germ-Line Mutations of the HRPT2 Gene in Sporadic Parathyroid Carcinoma by Shattuck, Trisha M, Välimäki, Stiina, Obara, Takao, Gaz, Randall D, Clark, Orlo H, Shoback, Dolores, Wierman, Margaret E, Tojo, Katsuyoshi, Robbins, Christiane M, Carpten, John D, Farnebo, Lars-Ove, Larsson, Catharina, Arnold, Andrew

“…Because mutations in the parafibromin gene ( HRPT2 ) occur in a familial syndrome characterized by susceptibility to parathyroid carcinoma, such mutations were…”
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Admixture and Population Stratification in African Caribbean Populations by Benn‐Torres, J., Bonilla, C., Robbins, C. M., Waterman, L., Moses, T. Y., Hernandez, W., Santos, E. R., Bennett, F., Aiken, W., Tullock, T., Coard, K., Hennis, A., Wu, S., Nemesure, B., Leske, M. C., Freeman, V., Carpten, J., Kittles, R. A.

“…Summary Throughout biomedical research, there is growing interest in the use of ancestry informative markers (AIMs) to deconstruct racial categories into…”
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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia by Slaugenhaupt, Susan A., Blumenfeld, Anat, Gill, Sandra P., Leyne, Maire, Mull, James, Cuajungco, Math P., Liebert, Christopher B., Chadwick, Brian, Idelson, Maria, Reznik, Luba, Robbins, Christiane M., Makalowska, Izabela, Brownstein, Michael J., Krappmann, Daniel, Scheidereit, Claus, Maayan, Channa, Axelrod, Felicia B., Gusella, James F.

“…Familial dysautonomia (FD; also known as “Riley-Day syndrome”), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital…”
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A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history by Kittles, R A, Baffoe-Bonnie, A B, Moses, T Y, Robbins, C M, Ahaghotu, C, Huusko, P, Pettaway, C, Vijayakumar, S, Bennett, J, Hoke, G, Mason, T, Weinrich, S, Trent, J M, Collins, F S, Mousses, S, Bailey-Wilson, J, Furbert-Harris, P, Dunston, G, Powell, I J, Carpten, J D

“…Background: The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in ∼10% of…”
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Influence of galactosyl lactose on energy and protein digestibility, enteric microflora, and performance of weanling pigs by Mathew, A. G, Robbins, C. M, Chattin, S. E, Quigley, J. D., 3rd

“…In three experiments, weanling pigs were used to investigate the effect of feeding .5% galactosyl lactose in a simple corn-soy diet on nutrient digestibility,…”
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Participatory research maximises community and lay involvement by Macaulay, Ann C, Commanda, Laura E, Freeman, William L, Gibson, Nancy, McCabe, Melvina L, Robbins, Carolyn M, Twohig, Peter L

“…The knowledge, expertise and resources of the involved community are often key to successful research. The primary features of participatory medical research…”
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The murine local lymph node assay: results of an inter-laboratory trial by Kimber, I, Hilton, J, Botham, P A, Basketter, D A, Scholes, E W, Miller, K, Robbins, M C, Harrison, P T, Gray, T J, Waite, S J

“…The local lymph node assay is a novel predictive test for the identification of contact allergens. The collaborative study reported here was performed to…”
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A 90-day feeding study of the alkaloids of Lupinus angustifolius in the rat by Robbins, M.C., Petterson, D.S., Brantom, P.G.

“…Groups of 20 Sprague-Dawley rats of each sex were fed diets containing lupin alkaloid at dose levels of 0, 100, 330, 1000 and 5000 ppm supplemented with…”
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The local lymph node assay: results of a final inter-laboratory validation under field conditions by Scholes, E W, Basketter, D A, Sarll, A E, Kimber, I, Evans, C D, Miller, K, Robbins, M C, Harrison, P T, Waite, S J

“…The local lymph node assay (LLNA) assesses the sensitizing activity of chemicals by measurement of primary lymphocyte proliferation in lymph nodes draining the…”
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