Results 241 to 250 of about 13,805 (257)
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The Sonographic Evaluation of Lissencephaly
Journal of Diagnostic Medical Sonography, 2003Lissencephaly is a neural disorder characterized by lack of sulcations in the brain. In lissencephaly, the normal migration of the neuron does not occur due to an insult to the fetus early in gestation. This causes a “smooth brain” appearance. Lissencephaly is associated with syndromes such as Walker-Warburg and Miller-Dieker syndromes.
Brandy Sundberg, Kim Michael, Jody Berg
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Murine modelling of classical lissencephaly
neurogenetics, 1999Classical lissencephaly is a severe human neuronal migration disorder characterized by a smooth cerebral surface and a paucity of gyri. Isolated lissencephaly sequence (ILS, OMIM 601545) and Miller-Dieker syndrome (MDS, OMIM 247200) are human malformation syndromes characterized by classical lissencephaly.
Shinji Hirotsune +2 more
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Magnetic resonance imaging in lissencephaly
European Journal of Pediatrics, 1987In a patient with clinical manifestations suggestive of brain malformation, computer-assisted tomography (CT) showed lissencephaly: agyria, pachygyria, absent opercularization, and colpocephaly. The patient did not have seizures or a typical EEG of hypsarrhythmia.
H. J. Steen +2 more
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Nuclear migration, nucleokinesis and lissencephaly
Trends in Cell Biology, 1998During the past 20 years, biologists have become used to finding that proteins first identified in simple, genetically manipulable eukaryotic organisms are conserved in higher eukaryotes. This article draws attention to the similarity between NUDF protein, which is required for nuclear migration in the filamentous fungus Aspergillus nidulans, and a ...
Vladimir P. Efimov +2 more
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Lissencephaly presenting with congenital hypothyroidism
Journal of Pediatric Endocrinology and Metabolism, 2013Lissencephaly is a rare brain malformation characterized by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration. Association of congenital hypothyroidism with lissencephaly is seldom reported. We report a case of lissencephaly with congenital hypothyroidism.
Ram Kumar Marwaha +3 more
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Lissencephaly: Update on diagnostics and clinical management.
European journal of paediatric neurology, 2021M. Koenig, W. Dobyns, N. Di Donato
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Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
European journal of paediatric neurology, 2021S. Kolbjer +4 more
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Lissencephaly With Pontocerebellar Hypoplasia
Journal of Child Neurology, 1996Saad A. Al Shawan +2 more
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