Results 101 to 110 of about 13,805 (257)
Lis1 is an initiation factor for dynein-driven organelle transport [PDF]
, 2012 The molecular motor cytoplasmic dynein is responsible for most minus-end–directed, microtubule-based transport in eukaryotic cells. It is especially important in neurons, where defects in microtubule-based motility have been linked to neurological ...
Egan, Martin +2 more
core +1 more source
Pediatric Neurology Briefs, 1999 The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees ...
J Gordon Millichap
doaj +1 more source
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain [PDF]
, 2016 We present a generic, multidisciplinary approach for improving our understanding of novel missense variants in recently discovered disease genes exhibiting genetic heterogeneity, by combining clinical and population genetics with protein structural ...
Caroline F. Wright +12 more
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Pediatric Neurology Briefs, 2001 The functional activity of lissencephalic cortex was studied using FD Glucose positron emission tomography in 8 patients, mean age 7.5 years, at Children’s Hospital of Michigan, Detroit, MI.
openaire +3 more sources
Hippocampal and Congenital Brain Malformations
Pediatric Neurology Briefs, 2009 Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.
J Gordon Millichap
doaj +1 more source
Dandy-Walker malformation: is the "tail sign" the key sign? [PDF]
, 2015 OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014 ...
Aliberti, C +10 more
core +1 more source
Comprehensive genotype-phenotype correlation in lissencephaly.
Quantitative Imaging in Medicine and Surgery, 2018 Malformations of cortical development (MCD) are a heterogenous group of disorders with diverse genotypic and phenotypic variations. Lissencephaly is a subtype of MCD caused by defect in neuronal migration, which occurs between 12 and 24 weeks of ...
A. Tan, W. Chong, K. Mankad
semanticscholar +1 more source
Gynecology Obstetrics & Reproductive Medicine, 2014 We present the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. The woman had a history of prednisolone use in early pregnancy, and conceived with copper containing intra uterine ...
Mehmet Serdar Kütük +4 more
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Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. [PDF]
, 2015 Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others ...
BERNI CANANI, ROBERTO +4 more
core +1 more source
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)
The Turkish Journal of Pediatrics, 2000 Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen +4 more
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