Search Results - "Stevenson, R E"

Etiology of Lipid-laden Macrophages and in the Lung by ER, Stevenson, LC, Smith, ML, Wilkinson, SJ, Lee, AJ, Gow

“…•Lipid-laden macrophages are observed in the lung in vivo following pulmonary injury, and this phenotype may significantly contribute to pulmonary…”
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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands by Cathey, S S, Leroy, J G, Wood, T, Eaves, K, Simensen, R J, Kudo, M, Stevenson, R E, Friez, M J

“…Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose 6-phosphate recognition marker is not synthesised…”
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Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis by Stevenson, RE, Rogers, RC, Chandler, JC, Gauderer, MWL, Hunter, AGW

“…Gastroschisis is a significant birth defect that in many countries has shown an increased prevalence in recent decades, and the change has affected primarily…”
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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia by Abidi, F E, Holloway, L, Moore, C A, Weaver, D D, Simensen, R J, Stevenson, R E, Rogers, R C, Schwartz, C E

“…Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene…”
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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X) by Basehore, M.J., Michaelson-Cohen, R., Levy-Lahad, E., Sismani, C., Bird, L.M., Friez, M.J., Walsh, T., Abidi, F., Holloway, L., Skinner, C., McGee, S., Alexandrou, A., Syrrou, M., Patsalis, P.C., Raymond, G., Wang, T., Schwartz, C.E., King, M.-C., Stevenson, R.E.

“…Alpha‐thalassemia intellectual disability, one of the recognizable X‐linked disability syndromes, is characterized by short stature, microcephaly, distinctive…”
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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome by Lyons, M J, Graham, Jr, J M, Neri, G, Hunter, A G W, Clark, R D, Rogers, R C, Moscarda, M, Boccuto, L, Simensen, R, Dodd, J, Robertson, S, DuPont, B R, Friez, M J, Schwartz, C E, Stevenson, R E

“…FG syndrome (FGS) is an X-linked disorder characterised by mental retardation, hypotonia, particular dysmorphic facial features, broad thumbs and halluces,…”
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Physiological and foliar symptom response in the crowns of Prunus serotina, Fraxinus americana and Acer rubrum canopy trees to ambient ozone under forest conditions by Schaub, M., Skelly, J.M., Zhang, J.W., Ferdinand, J.A., Savage, J.E., Stevenson, R.E., Davis, D.D., Steiner, K.C.

“…The crowns of five canopy dominant black cherry ( Prunus serotina Ehrh.), five white ash ( Fraxinus americana L.), and six red maple ( Acer rubrum L.) trees on…”
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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene by Lebel, RR, May, M, Pouls, S, Lubs, HA, Stevenson, RE, Schwartz, CE

“…Three brothers with non‐syndromal X‐linked mental retardation were found to have a novel missense mutation in FGD1, the gene associated with the Aarskog…”
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Ozone uptake (flux) as it relates to ozone-induced foliar symptoms of Prunus serotina and Populus maximowizii x trichocarpa by Orendovici-Best, T, Skelly, J.M, Davis, D.D, Ferdinand, J.A, Savage, J.E, Stevenson, R.E

“…Ozone flux for seedlings of pre-determined ozone-sensitive black cherry and ramets of hybrid poplar was estimated. A linear model was developed to estimate the…”
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A multi-variate statistical model integrating passive sampler and meteorology data to predict the frequency distributions of hourly ambient ozone (O 3) concentrations by Krupa, S., Nosal, M., Ferdinand, J.A., Stevenson, R.E., Skelly, J.M.

“…A statistical approach is described coupling passive ozone (O 3) sampler data with climatological variables to mimic the frequency distributions of hourly…”
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Sibling recurrence in intellectual disability of unknown cause by Collins, JS, Marvelle, AF, Stevenson, RE

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X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 by Christianson, Arnold L, Stevenson, Roger E, van der Meyden, C H, Pelser, Julie, Theron, Francois W, van Rensburg, Petro L, Chandler, Michael, Schwartz, Charles E

“…To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising…”
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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism by Bhat, SS, Ladd, S, Grass, F, Spence, JE, Brasington, CK, Simensen, RJ, Schwartz, CE, DuPont, BR, Stevenson, RE, Srivastava, AK

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Physiological and foliar injury responses of Prunus serotina, Fraxinus americana, and Acer rubrum seedlings to varying soil moisture and ozone by Schaub, M, Skelly, J.M, Steiner, K.C, Davis, D.D, Pennypacker, S.P, Zhang, J, Ferdinand, J.A, Savage, J.E, Stevenson, R.E

“…High soil water availability favors ozone uptake, increases foliar injury, and exacerbates the negative ozone effect on gas exchange of seedlings of deciduous…”
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A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 by Abidi, F E, Holinski-Feder, E, Rittinger, O, Kooy, F, Lubs, H A, Stevenson, R E, Schwartz, C E

“…The primers were designed to be approximately 50 bp away from the exon/intron boundary to ensure detection of any alteration at the splice junction. Since the…”
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Influence of light fleck and low light on foliar injury and physiological responses of two hybrid poplar clones to ozone by Wei, C., Skelly, J.M., Pennypacker, S.P., Ferdinand, J.A., Savage, J.E., Stevenson, R.E., Davis, D.D.

“…Five-month old hybrid poplar clones NE388 and NE359 were exposed to square-wave 30, 55, and 80 ppb O 3 (8 h/day, 7 day/week) under constant high light (HL) and…”
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Use of bioindicators and passive sampling devices to evaluate ambient ozone concentrations in north central Pennsylvania by Yuska, D.E., Skelly, J.M., Ferdinand, J.A., Stevenson, R.E., Savage, J.E., Mulik, J.D., Hines, A.

“…Passive samplers and bioindicator plants detect ozone air pollution in north central Pennsylvania. Ambient concentrations of tropospheric ozone and…”
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Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients by Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.

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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25 by Cabezas, David A, Slaugh, Rachel, Abidi, Fatima, Arena, J Fernando, Stevenson, Roger E, Schwartz, Charles E, Lubs, Herbert A

“…METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by…”
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Autism and macrocephaly by Stevenson, R E, Schroer, R J, Skinner, C, Fender, D, Simensen, R J

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