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Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants. [PDF]
Młynek M +20 more
europepmc +1 more source
Biophysical modeling of anatomically realistic prenatal cortical folding development
Wang X +11 more
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2014
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years.
Andrew E Fry +2 more
exaly +3 more sources
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years.
Andrew E Fry +2 more
exaly +3 more sources
Prenatal diagnosis of lissencephaly
Prenatal Diagnosis, 1991AbstractWe report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality.
D H Saltzman, Beryl R Benacerraf
exaly +3 more sources
Neuropathology of lissencephalies
Child's Nervous System, 1993The neuropathological findings at autopsy in four cases of type I and three of type II lissencephaly are presented. Type I lissencephaly is characterized by agyriapachygyria with a markedly thickened cerebral cortex with four coarse histological layers. The normally myelinated white matter, often with neuronal heterotopias, is very narrow, and the gray-
K, Kuchelmeister +2 more
openaire +2 more sources
Neuroimaging in lissencephalies
Child's Nervous System, 1993Based on the published literature and on our own experiences in the imaging of lissencephalies with ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) we propose a strategy for the use of the different methods depending on the clinical symptoms and the age of the patient.
G, Schuierer +2 more
openaire +2 more sources

