Search Results - "Stanley, A. C."

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism by Snider, K. E, Becker, S, Boyajian, L, Shyng, S.-L, MacMullen, C, Hughes, N, Ganapathy, K, Bhatti, T, Stanley, C. A, Ganguly, A

“…Context: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes. Objective: Our objective was to correlate genotype with…”
Get full text

Recycling endosome-dependent and -independent mechanisms for IL-10 secretion in LPS-activated macrophages by Stanley, A. C., Lieu, Z. Z., Wall, A. A., Venturato, J., Khromykh, T., Hamilton, N. A., Gleeson, P. A., Stow, J. L.

“…Two post‐Golgi pathways where IL‐10 is trafficked, ensures its secretion from activated macrophages under different physiological conditions. IL‐10 is a key…”
Get full text

Intranasal immunisation with Toxoplasma gondii tachyzoite antigen encapsulated into PLG microspheres induces humoral and cell-mediated immunity in sheep by Stanley, A.C., Buxton, D., Innes, E.A., Huntley, J.F.

“…Proteins from a crude extract of Toxoplasma gondii tachyzoites were encapsulated into poly( d, l-lactide-co-glycolide) (PLG) micro- and nano-particles with a…”
Get full text

Hyperinsulinism in infants and children by Stanley, C A

“…Hyperinsulinism is the most common cause of hypoglycemia in early infancy. Congenital hyperinsulinism, formerly termed nesidioblastosis, is usually caused by…”
Get more information

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene by Stanley, Charles A, Lieu, Yen K, Hsu, Betty Y.L, Burlina, Alberto B, Greenberg, Cheryl R, Hopwood, Nancy J, Perlman, Kusiel, Rich, Barry H, Zammarchi, Enrico, Poncz, Mortimer

“…Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in early infancy. 1 Affected children present with seizures or coma and are at…”
Get full text

The Causes of Neonatal Hypoglycemia by Stanley, Charles A, Baker, Lester

“…The risk of hypoglycemia in neonates is high. If their first feeding is delayed for as little as three to six hours after birth, 10 percent of normal neonates…”
Get full text

Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation by Glaser, Benjamin, Kesavan, Prebakaran, Heyman, Mozhgan, Davis, Elizabeth, Cuesta, Antonio, Buchs, Andreas, Stanley, Charles A, Thornton, Paul S, Permutt, M. Alan, Matschinsky, Franz M, Herold, Kevan C

“…Spontaneous hyperinsulinemic hypoglycemia in adults is most frequently caused by sporadic, solitary pancreatic beta-cell tumors, whereas hyperinsulinemic…”
Get full text

Diamond-based structures to collect and guide light by Castelletto, S, Harrison, J P, Marseglia, L, Stanley-Clarke, A C, Gibson, B C, Fairchild, B A, Hadden, J P, Ho, Y-L D, Hiscocks, M P, Ganesan, K, Huntington, S T, Ladouceur, F, Greentree, A D, Prawer, S, O'Brien, J L, Rarity, J G

Get full text

Genetic Heterogeneity in Familial Hyperinsulinism by Nestorowicz, Ann, Glaser, Benjamin, Wilson, Beth A., Shyng, Show-Ling, Nichols, Colin G., Stanley, Charles A., Thornton, Paul S., Permutt, M. Alan

“…Familial hyperinsulinism (HI) is a disorder characterized by dysregulation of insulin secretion and profound hypoglycemia. Mutations in both the Kir6.2 and…”
Get full text

The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition by Smith, JA, Brewer, HM, Eatough, V, Stanley, CA, Glendinning, NW, Quarrell, OWJ

“…There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here…”
Get full text

Parsing ketotic hypoglycaemia by Stanley, C A

“…The latter approach has been much more rewarding, yielding an ever expanding list of new disorders, including genetic defects of hepatic glucose production…”
Get full text

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene by GLASER, B, RYAN, F, DONATH, M, LANDAU, H, STANLEY, C. A, BAKER, L, BARTON, D. E, THORNTON, P. S

“…Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. B Glaser , F Ryan , M Donath , H Landau , C…”
Get full text

Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations by GRIMBERG, A, FERRY, R. J, BAKER, L, STANLEY, Charles A, KELLY, A, KOO-MCCOY, S, POLONSKY, K, GLASER, B, PERMUTT, M. A, AGUILAR-BRYAN, L, STAFFORD, D, THORNTON, P. S

“…Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations A. Grimberg , R.J. Ferry, Jr. , A. Kelly…”
Get full text

Strongly enhanced photon collection from diamond defect centers under microfabricated integrated solid immersion lenses by Hadden, J. P., Harrison, J. P., Stanley-Clarke, A. C., Marseglia, L., Ho, Y.-L. D., Patton, B. R., O’Brien, J. L., Rarity, J. G.

“…The efficiency of photon collection from optically active defect centers in bulk diamond is greatly reduced by refraction at the diamond-air interface. We…”
Get full text

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism by Nestorowicz, A., Inagaki, N., Gonoi, T., Schoor, K. P., Wilson, B. A., Glaser, B., Landau, H., Stanley, C. A., Thornton, P. S., Seino, S., Permutt, M. A.

“…A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. A Nestorowicz , N Inagaki , T Gonoi ,…”
Get full text

A syndrome of congenital hyperinsulinism and hyperammonemia by Weinzimer, Stuart A., Stanley, Charles A., Berry, Gerard T., Yudkoff, Marc, Tuchman, Mendel, Thornton, Paul S.

“…This report describes two patients from unrelated families with an unusual syndrome of hyperinsulinism plus hyperammonemia. The diagnosis of hyperinsulinism…”
Get full text

Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant by Thornton, Paul S., Satin-Smith, Marta S., Herold, Kevan, Glaser, Benjamin, Chiu, Ken C., Nestorowicz, Ann, Permutt, M.Alan, Baker, Lester, Stanley, Charles A.

“…We describe three families with hypoglycemia caused by familial hyperinsulinism (HI) in whom vertical transmission of the disorder occurred, suggesting…”
Get full text

Sudden neonatal death in carnitine transporter deficiency by Rinaldo, Piero, Stanley, Charles A., Hsu, Betty Y.L., Sanchez, Luis A., Stern, Harvey J.

“…A newborn infant died suddenly and unexpectedly on day 5 of life. Postmortem investigations led to a suspicion of carnitine transporter deficiency, a diagnosis…”
Get full text

Reduced growth of dermal fibroblasts from chronic venous ulcers can be stimulated with growth factors by Stanley, Andrew C., Park, Hee-Young, Phillips, Tania J., Russakovsky, Vladimir, Menzoian, James O.

“…Purpose: Although the slow healing rate of venous ulcers is well known, the underlying defect in the healing process is not well understood. The purpose of…”
Get full text

Nanofabricated solid immersion lenses registered to single emitters in diamond by Marseglia, L., Hadden, J. P., Stanley-Clarke, A. C., Harrison, J. P., Patton, B., Ho, Y.-L. D., Naydenov, B., Jelezko, F., Meijer, J., Dolan, P. R., Smith, J. M., Rarity, J. G., O'Brien, J. L.

“…We describe a technique for fabricating micro- and nanostructures incorporating fluorescent defects in diamond with a positional accuracy better than hundreds…”
Get full text