[PDF][PDF] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

…, E Thiele, JC Egelhoff, J Kasprzyk-Obara… - The American Journal of …, 2001 - cell.com
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis …

[HTML][HTML] Decreased brain volume in adults with childhood lead exposure

…, CM Adler, KN Dietrich, M Altaye, JC Egelhoff… - PLoS …, 2008 - journals.plos.org
Background Although environmental lead exposure is associated with significant deficits in
cognition, executive functions, social behaviors, and motor abilities, the neuroanatomical …

Altered myelination and axonal integrity in adults with childhood lead exposure: a diffusion tensor imaging study

…, VJ Schmithorst, EN Haynes, KN Dietrich, JC Egelhoff… - Neurotoxicology, 2009 - Elsevier
Childhood lead exposure is associated with adverse cognitive, neurobehavioral and motor
outcomes, suggesting altered brain structure and function. The purpose of this work was to …

Spinal MR findings in neurofibromatosis types 1 and 2.

JC Egelhoff, DJ Bates, JS Ross… - American journal …, 1992 - Am Soc Neuroradiology
PURPOSE To evaluate the frequency and nature of spinal pathology, the frequency of
clinically silent lesions, and the potential benefit of screening spinal MR in neurofibromatosis …

The impact of early childhood lead exposure on brain organization: a functional magnetic resonance imaging study of language function

…, M Altaye, RW Hornung, MD Ris, JC Egelhoff… - …, 2006 - publications.aap.org
OBJECTIVES. The purpose of this work was to assess the long-term impact of childhood lead
exposure on the neurosubstrate of language function and brain organization. METHODS. …

Autism and the cerebellum: evidence from tuberous sclerosis

AM Weber, JC Egelhoff, JM McKellop… - Journal of autism and …, 2000 - search.proquest.com
Twenty-nine patients with TS who are regularly followed in the multidisciplinary TS Clinic at
the Children’s Hospital Medical Center in Cincinnati participated in the study. This group of …

Estimation of heritabilities, genetic correlations, and breeding values of four traits that collectively define hip dysplasia in dogs

…, J Sandler, SS Friedenberg, J Egelhoff… - American journal of …, 2009 - Am Vet Med Assoc
Objective —To estimate heritabilities and genetic correlations among 4 traits of hip joints (distraction
index [DI], dorsolateral subluxation [DLS] score, Norberg angle [NA], and extended–…

Magnetic resonance imaging findings in children with a first recognized seizure

…, SM Perkins, CS Johnson, VP Mathews, JC Egelhoff… - Pediatric …, 2008 - Elsevier
This study characterized structural abnormalities associated with onset of seizures in children,
using magnetic resonance imaging and a standardized classification system in a large …

Morphometric differences in the Heschl's gyrus of hearing impaired and normal hearing infants

…, M Komlos, R Maitra, KP Eaton, JC Egelhoff… - Cerebral …, 2011 - academic.oup.com
This study investigates the morphometry of Heschl's gyrus and its included primary auditory
cortex (PAC) in hearing impaired (HI) and normal hearing (NH) infants. Fourty-two infants, …

Proton magnetic resonance spectroscopy in adults with childhood lead exposure

…, KN Dietrich, M Altaye, JC Egelhoff… - Environmental …, 2011 - ehp.niehs.nih.gov
Background Childhood lead exposure adversely affects neurodevelopment. However, few
studies have examined changes in human brain metabolism that may underlie known …