Polymicrogyria: a common and heterogeneous malformation of cortical development. - sprookjes - yvandenbroek - TriplyDB

Polymicrogyria: a common and heterogeneous malformation of cortical development.

Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.A case of Bilateral Perisylvian Syndrome with reading disability.Genetic animal models of malformations of cortical development and epilepsy.A review of structural brain abnormalities in Pallister-Killian syndrome.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.The histopathology of polymicrogyria: a series of 71 brain autopsy studies.Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

http://www.wikidata.org/entity/Q30828370

description

2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Polymicrogyria: a common and heterogeneous malformation of cortical development.

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Chloe A Stutterd

http://www.w3.org/2001/XMLSchema#string

Richard J Leventer

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P2860

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

RTTN mutations link primary cilia function to organization of the human cerebral cortex

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

G protein-coupled receptor-dependent development of human frontal cortex

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

A developmental and genetic classification for malformations of cortical development: update 2012

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227-239

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scholarly article

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10.1002/AJMG.C.31399

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2

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166C

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2014-05-28T00:00:00Z

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24888723

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