A developmental and genetic classification for malformations of cortical development: update 2012 (Q26858999)

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26 January 2020

1 reference

6 November 2020

0 references

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

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22427329%20AND%20SRC:MED&resulttype=core&format=json

malformation of cortical development

26 January 2020

main subject

1 reference

14 September 2019

1 reference

12 September 2019

2 references

14 September 2019

6 November 2020

5

1 reference

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26 January 2020

2

Renzo Guerrini

1 reference

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26 January 2020

author name string

A James Barkovich

series ordinal

1

1 reference

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26 January 2020

Ruben I Kuzniecky

series ordinal

3

1 reference

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26 January 2020

Graeme D Jackson

series ordinal

4

1 reference

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26 January 2020

language of work or name

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16 March 2012

1 reference

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26 January 2020

1 May 2012

1 reference

6 November 2020

10 references

22 April 2019

25 April 2019

20 June 2019

24 June 2019

30 June 2019

12 September 2019

14 September 2019

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26 January 2020

6 November 2020

135

2 references

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26 January 2020

issue

Pt 5

2 references

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26 January 2020

page(s)

1348-1369

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Creative Commons Attribution-NonCommercial 3.0 Unported

26 January 2020

copyright license

8 references

22 April 2019

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on focus list of Wikimedia project

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ScienceSource

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cites work

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

21 March 2017

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

21 March 2017

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

21 March 2017

1 reference

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 March 2017

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WDR62 is associated with the spindle pole and is mutated in human microcephaly

21 March 2017

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

21 March 2017

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

21 March 2017

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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

21 March 2017

1 reference

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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

21 March 2017

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

21 March 2017

1 reference

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

21 March 2017

1 reference

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

21 March 2017

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Sex-dependent association of common variants of microcephaly genes with brain structure

21 March 2017

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CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

21 March 2017

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

21 March 2017

1 reference

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

21 March 2017

1 reference

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 March 2017

1 reference

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

21 March 2017

1 reference

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Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

21 March 2017

1 reference

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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 March 2017

1 reference

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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

21 March 2017

1 reference

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 March 2017

1 reference

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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

21 March 2017

1 reference

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

21 March 2017

1 reference

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 March 2017

1 reference

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An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

21 March 2017

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Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice

21 March 2017

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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

21 March 2017

1 reference

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 March 2017

1 reference

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Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 March 2017

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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

21 March 2017

1 reference

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A novel role for Dbx1-derived Cajal-Retzius cells in early regionalization of the cerebral cortical neuroepithelium

21 March 2017

1 reference

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Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Polymicrogyria and absence of pineal gland due to PAX6 mutation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Novel CENPJ mutation causes Seckel syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Peroxisome biogenesis disorders

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Unique morphological features of the proliferative zones and postmitotic compartments of the neural epithelium giving rise to striate and extrastriate cortex in the monkey

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Postmitotic Nkx2-1 controls the migration of telencephalic interneurons by direct repression of guidance receptors

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

SOX5 controls the sequential generation of distinct corticofugal neuron subtypes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Fgf10 regulates transition period of cortical stem cell differentiation to radial glia controlling generation of neurons and basal progenitors

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

GPR56 regulates pial basement membrane integrity and cortical lamination

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mitotic spindle regulation by Nde1 controls cerebral cortical size

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neurogenic radial glia in the outer subventricular zone of human neocortex

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neuronal subtype specification in the cerebral cortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The tuberous sclerosis complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Recessive LAMC3 mutations cause malformations of occipital cortical development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Robo1 regulates semaphorin signaling to guide the migration of cortical interneurons through the ventral forebrain.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Bottom-of-sulcus dysplasia: imaging features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A vertebrate N-end rule degron reveals that Orc6 is required in mitosis for daughter cell abscission

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The Stil protein regulates centrosome integrity and mitosis through suppression of Chfr

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neuroradiologic features of CASK mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Heterogeneity in ventricular zone neural precursors contributes to neuronal fate diversity in the postnatal neocortex.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The application of cortical layer markers in the evaluation of cortical dysplasias in epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Current concepts of polymicrogyria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Guiding neuronal cell migrations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Genetic fate mapping reveals that the caudal ganglionic eminence produces a large and diverse population of superficial cortical interneurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Gradients in the brain: the control of the development of form and function in the cerebral cortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The transition from radial glial to intermediate progenitor cell is inhibited by FGF signaling during corticogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Primary microcephaly: do all roads lead to Rome?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Genes and signaling events that establish regional patterning of the mammalian forebrain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Abnormal glycosylation of dystroglycan in human genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Regulation of radial glial survival by signals from the meninges.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Molecular mechanisms of projection neuron production and maturation in the developing cerebral cortex.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Netrin-1-alpha3beta1 integrin interactions regulate the migration of interneurons through the cortical marginal zone.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Decision by division: making cortical maps

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mechanisms underlying the specification, positional regulation, and function of the cortical hem.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neurogenin 2 controls cortical neuron migration through regulation of Rnd2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Origins of cortical GABAergic neurons in the cynomolgus monkey

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Frontal cortex subdivision patterning is coordinately regulated by Fgf8, Fgf17, and Emx2

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Area patterning of the mammalian cortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Pontocerebellar hypoplasia type 2: a neuropathological update.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

ASPM and citron kinase co-localize to the midbody ring during cytokinesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Patterning of frontal cortex subdivisions by Fgf17.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Layer-specific markers as probes for neuron type identity in human neocortex and malformations of cortical development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Microcephalin: a causal link between impaired damage response signalling and microcephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Neural stem cells in mammalian development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Meninges control tangential migration of hem-derived Cajal-Retzius cells via CXCL12/CXCR4 signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Epileptogenesis in pediatric cortical dysplasia: the dysmature cerebral developmental hypothesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Gene networks controlling early cerebral cortex arealization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

SRPX2 mutations in disorders of language cortex and cognition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Dystroglycan: from biosynthesis to pathogenesis of human disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Massive loss of Cajal-Retzius cells does not disrupt neocortical layer order

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Genotypically defined lissencephalies show distinct pathologies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A developmental and genetic classification for malformations of cortical development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Multiple origins of Cajal-Retzius cells at the borders of the developing pallium.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Genetics of the polymicrogyria syndromes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutant deoxynucleotide carrier is associated with congenital microcephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A locus for bilateral perisylvian polymicrogyria maps to Xq28

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Report and review of the fetal brain disruption sequence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Microgyria in the distribution of the middle cerebral artery in a patient with DiGeorge syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A classification scheme for malformations of cortical development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A segmental morphological paradigm for understanding vertebrate forebrains

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

An additional case of pachygyria, joint contractures and facial abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Familial schizencephaly: further delineation of a rare disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Focal dysplasia of the cerebral cortex in epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Septo-optic dysplasia: MR imaging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Clinical and molecular diagnosis of Miller-Dieker syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Schizencephaly: correlation of clinical findings with MR characteristics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Retinoic acid from the meninges regulates cortical neuron generation

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

POMT2 mutation in a patient with 'MEB-like' phenotype.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Periventricular nodular heterotopia with overlying polymicrogyria

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Protein-truncating mutations in ASPM cause variable reduction in brain size

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Morphologic characteristics of subcortical heterotopia: MR imaging study.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Syndromes of bilateral symmetrical polymicrogyria

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Regionalization of the prosencephalic neural plate.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Familial schizencephaly associated with EMX2 mutation.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Subcortical heterotopia: a distinct clinicoradiologic entity

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Muscle-eye-brain disease (MEB)

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

31 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

MRI analysis of sulcation morphology in polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Focal transmantle dysplasia: a specific malformation of cortical development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Classification system for malformations of cortical development: update 2001.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Sublobar dysplasia: a new malformation of cortical development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A time and a place for nkx2-1 in interneuron specification and migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Hemimegalencephaly in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Immunohistochemical analysis of developmental neural antigen expression in the balloon cells of focal cortical dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Calcium signalling in the guidance of nerve growth by netrin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Cortical progenitor cells in the developing human telencephalon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Cytomegalovirus infection and schizencephaly: case reports.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Peroxisomal disorders in children: immunohistochemistry and neuropathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Developmental lineage of cell types in cortical dysplasia with balloon cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A hypothesis regarding the pathogenesis and epileptogenesis of pediatric cortical dysplasia and hemimegalencephaly based on MRI cerebral volumes and NeuN cortical cell densities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

No major role for theEMX2gene in schizencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Periventricular heterotopia in fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Hemimegalencephaly with tuberous sclerosis: a longitudinal imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Periventricular heterotopia associated with chromosome 5p anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

ASPM mutations identified in patients with primary microcephaly and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Comprehensive EMX2 genotyping of a large schizencephaly case series.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Sublobar dysplasia--A clinicopathologic report after successful epilepsy surgery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Contributions of cortical subventricular zone to the development of the human cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

Periventricular nodular heterotopia and Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS019

A distinct variant of focal cortical dysplasia type I characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Sonographic appearance of the normal and abnormal insula of Reil

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338922

Muscle-eye-brain disease: a neuropathological study

28 November 2018

1 reference

12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

12 December 2020

Classical lissencephaly associated with dolichocephaly, hair and nail defect

1 reference

12 December 2020

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

1 reference

12 December 2020

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

1 reference

12 December 2020

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

1 reference

12 December 2020

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWS019

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22427329%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22427329%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22427329%20AND%20SRC:MED&resulttype=core&format=json