نتایج جستجو برای: lissencephaly
تعداد نتایج: 686 فیلتر نتایج به سال:
To cite: Syed AE. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206522 DESCRIPTION A 5-month-old full-term male patient, born of a nonconsanguineous marriage presented to A&E department following parental concerns about abnormal movements and developmental regression. Development halted at 4 months of age. The patient increasingly showed episodes with flicke...
Both Miller-Dieker syndrome and isolated lissencephaly sequence are associated with classical lissencephaly. Both have been shown to be associated with deletions and mutations in LIS1 on 17p. Traditionally, the two disorders have been distinguished by the presence of a characteristic facial appearance in Miller-Dieker syndrome. The forehead is tall and prominent and may have vertical furrowing....
Lissencephaly is a congenital brain malformation manifested by a smooth cerebral surface due to incomplete neuronal migration (Dobyns, 1989). Type I lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in Miller-Dieker syndrome (MDS; Miller, 1963; Dieker, 1967). Lissencephaly patients usually die young with profound mental retardation, muscl...
Lissencephaly is a congenital brain malformation manifested by a smooth cerebral surface due to incomplete neuronal migration (Dobyns, 1989). Type I lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in Miller-Dieker syndrome (MDS; Miller, 1963; Dieker, 1967). Lissencephaly patients usually die young with profound mental retardation, muscl...
BACKGROUND Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus,...
Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as "Tubulinopathies". To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) an...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید