Search Results - "Bohan, Timothy P."

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C by Nowakowska, Beata A., Obersztyn, Ewa, Szymańska, Krystyna, Bekiesińska-Figatowska, Monika, Xia, Zhilian, Ricks, Christian B., Bocian, Ewa, Stockton, David W., Szczałuba, Krzysztof, Nawara, Magdalena, Patel, Ankita, Scott, Daryl A., Cheung, Sau Wai, Bohan, Timothy P., Stankiewicz, Paweł

“…We present four patients, in whom we identified overlapping deletions in 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic…”
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Thrombotic microangiopathy associated with Valproic acid toxicity by Hebert, Sean A, Bohan, Timothy P, Erikson, Christian L, Swinford, Rita D

“…Thrombotic microangiopathy (TMA) is a serious, sometimes life-threatening disorder marked by the presence of endothelial injury and microvascular thrombi…”
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l‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives by Vivo, Darryl C., Bohan, Timothy P., Coulter, David L., Dreifuss, Fritz E., Greenwood, Robert S., Nordli, Douglas R., Shields, W. Donald, Stafstrom, Carl E., Tein, Ingrid

“…In November 1996, a panel of pediatric neurologists met to update the consensus statement issued in 1989 by a panel of neurologists and metabolic experts on…”
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NOTCH, a new signaling pathway implicated in holoprosencephaly by DUPE, Valérie, ROCHARD, Lucie, ODENT, Sylvie, DUBOURG, Christèle, DAVID, Veronique, MERCIER, Sandra, LE PETILLON, Yann, GICQUEL, Isabelle, BENDAVID, Claude, BOURROUILLOU, Georges, KINI, Usha, THAUVIN-ROBINET, Christel, BOHAN, Timothy P

“…Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been…”
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A double-blind, placebo-controlled withdrawal trial of dexmethylphenidate hydrochloride in children with attention deficit hyperactivity disorder by Arnold, L Eugene, Lindsay, Ronald L, Conners, C Keith, Wigal, Sharon B, Levine, Alan J, Johnson, Diane E, West, Scott A, Sangal, R Bart, Bohan, Timothy P, Zeldis, Jerome B

“…d,l-threo-methylphenidate HCl (D,L-MPH) is the most common treatment of attention deficit hyperactivity disorder (ADHD). A previous report showed…”
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Verbal and nonverbal skill discrepancies in children with hydrocephalus: a five-year longitudinal follow-up by Brookshire, B L, Fletcher, J M, Bohan, T P, Landry, S H, Davidson, K C, Francis, D J

“…Compared verbal and nonverbal skills of 65 children ages 5 to 7 years, with a history of shunted hydrocephalus (n = 26), arrested hydrocephalus (n = 11), and…”
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Verbal and nonverbal skill discrepancies in hydrocephalic children by Fletcher, J M, Francis, D J, Thompson, N M, Davidson, K C, Miner, M E

“…This study evaluated a large sample (N = 90) of 5- to 7-year-old children with hydrocephalus caused by aqueductal stenosis or prematurity-intraventricular…”
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Longitudinal Neurological Follow-up of a Group of HIV-Seropositive and HIV-Seronegative Hemophiliacs: Results From the Hemophilia Growth and Development Study by Mitchell, Wendy G, Lynn, Henry, Bale, James F., Jr, Maeder, Margaret A, Donfield, Sharyne M, Garg, Bhuwan, Tilton, Ann H, Willis, John K, Bohan, Timothy P

“…Boys and young men with hemophilia treated with factor infusions before 1985 had a substantial risk of acquiring the human immunodeficiency virus (HIV) and the…”
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Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-CoA dehydrogenase deficiency by ROE, C. R, MILLINGTON, D. S, MALTBY, D. A, BOHAN, T. P, KAHLER, S. G, CHALMERS, R. A

“…The medium-chain acyl-coA dehydrogenase deficiency is one of several metabolic disorders presenting clinically as Reye syndrome. Evidence is presented for a…”
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Effects of human immunodeficiency virus and immune status on magnetic resonance imaging of the brain in hemophilic subjects : results from the hemophilia growth and development study by MITCHELL, W. G, NELSON, M. D, CONTANT, C. F, BALE, J. F, WILSON, D. A, BOHAN, T. P, FENSTERMACHER, M. J

“…To determine the effects of hemophilia and human immunodeficiency virus (HIV) infection on the nervous system, the authors examined the relationship of brain…”
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Treatment-resistant eosinophilic polymyositis in a child by Mancias, P, Bohan, T P, Butler, I J, Bhattacharjee, M B

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A child with valproic acid-associated carnitine deficiency and carnitine-responsive cardiac dysfunction by Bratton, S L, Garden, A L, Bohan, T P, French, J W, Clarke, W R

“…Valproic acid enhances renal losses of carnitine esters and leads to decreased plasma free carnitine concentrations in many patients receiving valproic acid…”
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Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? by Bohan, Timothy P, Azizi, Parvin

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Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs by Dominguez, R, Aguirre Vila-Coro, A, Slopis, J M, Bohan, T P

“…We describe 10 infants with developmental delay and congenital cerebral anomalies who were found to have had in utero exposure to vasoactive drugs. Nine…”
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Effects of Calcium-Containing Fixation Solutions on Cholinergic Synaptic Vesicles by Boyne, Alan F., Bohan, Timothy P., Williams, Terence H.

“…Calcium (Ca)-containing fixation solutions applied to slices of electric organ of the electric ray, Narcine brasiliensis, have been shown to have three…”
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Regional brain tissue composition in children with hydrocephalus. Relationships with cognitive development by Fletcher, J M, McCauley, S R, Brandt, M E, Bohan, T P, Kramer, L A, Francis, D J, Thorstad, K, Brookshire, B L

“…To determine whether children with shunted hydrocephalus show variations in regional brain tissue composition that relate to cognitive functions. Nonequivalent…”
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Effect of L-carnitine treatment for valproate-induced hepatotoxicity by DeVivo, Darryl C

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Cerebral white matter and cognition in hydrocephalic children by Fletcher, J M, Bohan, T P, Brandt, M E, Brookshire, B L, Beaver, S R, Francis, D J, Davidson, K C, Thompson, N M, Miner, M E

“…Although children with hydrocephalus frequently show poor development of nonverbal cognitive skills relative to verbal skills, little is known about the…”
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Effects of intraventricular hemorrhage and hydrocephalus on the long‐term neurobehavioral development of preterm very‐low‐birthweight infants by Fletcher, Jack M., Landry, Susan H., Bohan, Timothy P., Davidson, Kevin C., Brookshire, Bonnie L., Lachar, David, Kramer, Larry A., Francis, David J.

“…I Measures of intelligence, neuropsychological functions, academic skills, and behavioral adjustment were obtained at school‐age from children born preterm…”
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Valproate-induced coma with ketosis and carnitine insufficiency by Triggs, W J, Bohan, T P, Lin, S N, Willmore, L J

“…We observed two patients who developed coma following administration of valproate in dosages of 32 to 40 mg/kg per day. Valproate levels were within the…”
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