نتایج جستجو برای: septo
تعداد نتایج: 499 فیلتر نتایج به سال:
Septo-optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.
Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...
BACKGROUND AND PURPOSE Midbrain-hindbrain involvement in septo-optic dysplasia has not been well described, despite reported mutations of genes regulating brain stem patterning. We aimed to describe midbrain-hindbrain involvement in patients with septo-optic dysplasia and to identify possible clinical-neuroimaging correlations. MATERIALS AND METHODS Using MR imaging, we categorized 38 patient...
The septo-hippocampal cholinergic pathway has traditionally been thought of as essential for spatial memory. Recent studies have demonstrated intact spatial learning following removal of this pathway with an immunotoxin selective for cholinergic neurons. In the present experiment, rats with selective removal of hippocampal cholinergic input were tested in a delayed nonmatching-to-position task ...
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