Search Results - "Peskett, E."

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants by Savastano, C.P., Brito, L.A., Faria, Á.C., Setó‐Salvia, N., Peskett, E., Musso, C.M., Alvizi, L., Ezquina, S.A.M., James, C., GOSgene, Beales, P., Lees, M., Moore, G.E., Stanier, P., Passos‐Bueno, M.R.

“…Non‐syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome‐wide association studies (GWAS) on NSCL/P…”
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Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family by Seselgyte, R., Bryant, D., Demetriou, C., Ishida, M., Peskett, E., Moreno, N., Morrogh, D., Sell, D., Lees, M., Farrall, M., Moore, G.E., Sommerlad, B., Pauws, E., Stanier, P.

“…This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border of…”
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X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations by Pauws, E, Peskett, E, Boissin, C, Hoshino, A, Mengrelis, K, Carta, E, Abruzzo, MA, Lees, M, Moore, GE, Erickson, RP, Stanier, P

“…X‐linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually…”
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Characterisation of coronal suture fusion in a Crouzon mouse model by Kumar, S, Peskett, E, Pauws, E, Britto, J.A

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Critical role for the p110α phosphoinositide-3-OH kinase in growth and metabolic regulation by FOUKAS, Lazaros C, CLARET, Marc, PEARCE, Wayne, OKKENHAUG, Klaus, MEEK, Stephen, PESKETT, Emma, SANCHO, Sara, SMITH, Andrew J. H, WITHERS, Dominic J, VANHAESEBROECK, Bart

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Essential role for the p110 δ phosphoinositide 3-kinase in the allergic response by Vanhaesebroeck, Bart, Ali, Khaled, Bilancio, Antonio, Thomas, Matthew, Pearce, Wayne, Gilfillan, Alasdair M, Tkaczyk, Christine, Kuehn, Nicolas, Gray, Alexander, Giddings, June, Peskett, Emma, Fox, Roy, Bruce, Ian, Walker, Christoph, Sawyer, Carol, Okkenhaug, Klaus, Finan, Peter

“…Inflammatory substances released by mast cells induce and maintain the allergic response. Mast cell differentiation and activation are regulated, respectively,…”
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Impaired B and T Cell Antigen Receptor Signaling in p110δ PI 3-Kinase Mutant Mice by Okkenhaug, Klaus, Bilancio, Antonio, Farjot, Géraldine, Priddle, Helen, Sancho, Sara, Peskett, Emma, Pearce, Wayne, Meek, Stephen E., Salpekar, Ashreena, Waterfield, Michael D., Andrew J. H. Smith, Vanhaesebroeck, Bart

“…Class IA phosphoinositide 3-kinases (PI3Ks) are a family of p85/p110 heterodimeric lipid kinases that generate second messenger signals downstream of tyrosine…”
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Abstract 58: PUTATIVE GENES DOWNSTREAM OF FGFR2 CONTRIBUTING TO CORONAL SUTURE SYNOSTOSIS IN A C342Y CROUZON MURINE MODEL by Kumar, Samintharaj, Peskett, E, Britto, JA, Pauws, E

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The Impact Of Aerobic Exercise On Irisin Levels In Individuals With Different Type 2 Diabetes Durations: 476 by Thomson, Amy M., Paudel, Yadab, Rioux, Brittany V., Peskett, Logan E., Hrubeniuk, Travis J., Sénéchal, Martin

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Impact Of Exercise Intensity On Acute Irisin Release And Insulin Sensitivity Across Obesity Status: 2626 by Rioux, Brittany V., Paudel, Yadab, Thomson, Amy M., Peskett, Logan E., Sénéchal, Martin

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Impact Of Blood Flow Restriction Training Performed At Different Times Of Day On Performance: 1283 by Peskett, Logan E., Nancekievill, Dawson, Thomson, Amy M., Arnason, Julia, Paudel, Yadab, Senechal, Martin

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Hand assessment--a realistic reappraisal by Peskett, E B

“…In order to evaluate surgical procedures practised on the rheumatoid hand, assessment of hand function, both before and after surgery, must be made on a…”
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Hospitals for the mentally ill and handicapped in Melbourne Australia by Peskett, E J

“…This report of visits made while on a Churchill Traveling Fellowship briefly outlines some catering problems in caring for the mentally ill and handicapped…”
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Unrewarded Service by Peskett, E

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