نتایج جستجو برای: lissencephaly
تعداد نتایج: 686 فیلتر نتایج به سال:
A 29-week fetus was noted to have dilation of the entire ventricular system on prenatal ultrasound. Fetal MRI at 33 weeks revealed brain malformations suggestive of congenital muscular dystrophy (figure, A and B).1,2 Following normal delivery at 40 weeks, examination was remarkable for retinal detachment (figure, D) and optic nerve hypoplasia, without dysmorphic features. Sequence analysis show...
Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagno...
The developmental mechanisms underlying the formation of human cortical convolutions (gyri and sulci) remain largely unknown. Genetic causes of lissencephaly (literally 'smooth brain') would imply that disorders in neuronal migration cause the loss of cortical convolutions. However, prior studies have suggested that loss of sulci and gyri can also arise from impaired proliferation, disrupted la...
BACKGROUND The compressed curriculum in modern knowledge-intensive medicine demands useful tools to achieve approved learning aims in a limited space of time. Web-based learning can be used in different ways to enhance learning. Little is however known regarding its optimal utilisation. Our aim was to investigate if the individual learning styles of medical students influence the choice to use ...
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstr...
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