Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q28076998)
Watch
English
Genetic Basis of Brain Malformations
scientific article
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
review article
1 reference
stated in
Europe PubMed Central
title
Genetic Basis of Brain Malformations
(English)
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
main subject
brain
0 references
author
Elena Parrini
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
Valerio Conti
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
William B. Dobyns
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
Renzo Guerrini
series ordinal
4
object named as
Renzo Guerrini
1 reference
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
language of work or name
English
1 reference
stated in
PubMed
publication date
27 August 2016
1 reference
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
published in
Molecular syndromology
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
volume
7
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
issue
4
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
page(s)
220-233
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
cites work
Diagnostic methods and treatment options for focal cortical dysplasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
RTTN mutations link primary cilia function to organization of the human cerebral cortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
A developmental and genetic classification for malformations of cortical development: update 2012
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
G protein-coupled receptor-dependent development of human frontal cortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
20 March 2017
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Malformations of cortical development: clinical features and genetic causes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Neuronal migration disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Genotypically defined lissencephalies show distinct pathologies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Neuronal migration disorders, genetics, and epileptogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
A locus for bilateral perisylvian polymicrogyria maps to Xq28
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Neuronal migration disorders: from genetic diseases to developmental mechanisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Megalencephaly: types, clinical syndromes, and management
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Schizencephaly: correlation of clinical findings with MR characteristics
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
29 September 2017
Ultra-high-field MR imaging in polymicrogyria and epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Somatic activation of AKT3 causes hemispheric developmental brain malformations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Syndromes of bilateral symmetrical polymicrogyria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Schizencephaly: correlations of clinical and radiologic features
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
2 June 2018
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Focal brain malformations: seizures, signaling, sequencing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Genetic and neuroradiological heterogeneity of double cortex syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Focal transmantle dysplasia: a specific malformation of cortical development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Familial schizencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073505
retrieved
27 November 2018
Epidemiology of hemimegalencephaly: a case series and review
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27781032
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
An international consensus classification for focal cortical dysplasias
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27781032
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27781032
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000448639
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
PMC publication ID
5073505
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
PubMed publication ID
27781032
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMC publication ID
5073505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781032%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 March 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit