Periventricular heterotopia associated with chromosome 5p anomalies.
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Genes and brain malformations associated with abnormal neuron positioningA developmental and genetic classification for malformations of cortical development: update 2012Neuronal migration disorders: clinical, neuroradiologic and genetics aspectsPeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneFLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.Periventricular heterotopia in common microdeletion syndromesCombined cardiological and neurological abnormalities due to filamin A gene mutation.Malformations of cortical development: clinical features and genetic causesDevelopmental genetic malformations of the cerebral cortex.FLNA genomic rearrangements cause periventricular nodular heterotopia.MEKK4 signaling regulates filamin expression and neuronal migration.Connexin 43 controls the multipolar phase of neuronal migration to the cerebral cortexGenetic defects of human brain development.Complex roles of filamin-A mediated cytoskeleton network in cancer progression.Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutationPartial trisomy of 7q: case report and literature review.Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.The clinical spectrum of nodular heterotopias in children: report of 31 patients.Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and DiseaseGenomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.Impaired proliferation and migration in human Miller-Dieker neural precursors.Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study.Role of SOX2 mutations in human hippocampal malformations and epilepsy.A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging.Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation.Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges.Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).Malformations of cortical development and epilepsyMalformations of cortical development and epilepsyDeletion of filamin A in two female patients with periventricular nodular heterotopiaDeletion of chromosome 1p36 is associated with periventricular nodular heterotopiaNovel cardiac findings in periventricular nodular heterotopiaPeriventricular nodular heterotopia and Williams syndrome
P2860
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P2860
Periventricular heterotopia associated with chromosome 5p anomalies.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Periventricular heterotopia associated with chromosome 5p anomalies.
@en
Periventricular heterotopia associated with chromosome 5p anomalies.
@nl
type
label
Periventricular heterotopia associated with chromosome 5p anomalies.
@en
Periventricular heterotopia associated with chromosome 5p anomalies.
@nl
prefLabel
Periventricular heterotopia associated with chromosome 5p anomalies.
@en
Periventricular heterotopia associated with chromosome 5p anomalies.
@nl
P2093
P1433
P1476
Periventricular heterotopia associated with chromosome 5p anomalies.
@en
P2093
E Braverman
J W Wheless
K Weisiger
P D Cotter
P304
P356
10.1212/01.WNL.0000052689.03214.61
P407
P577
2003-03-01T00:00:00Z