Polymicrogyria: a common and heterogeneous malformation of cortical development (Q30828370)

26 June 2017

title

Polymicrogyria: a common and heterogeneous malformation of cortical development (English)

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26 June 2017

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Chloe A Stutterd

1

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26 June 2017

Richard J Leventer

series ordinal

2

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26 June 2017

publication date

28 May 2014

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

26 June 2017

published in

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26 June 2017

volume

166C

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26 June 2017

issue

2

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26 June 2017

page(s)

227-239

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

26 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Language and motor FMRI activation in polymicrogyric cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Recessive LAMC3 mutations cause malformations of occipital cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Current concepts of polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

MRI analysis of sulcation morphology in polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Truncation of NHEJ1 in a patient with polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Microgyria and cytomegalic inclusion disease in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Observations on cerebral and cerebellar microgyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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/10.1002%2FAJMG.C.31399

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Congenital varicella-zoster. A serologically proven case with necrotizing encephalitis and malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Cytomegalovirus infection and schizencephaly: Case reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Clinical and imaging features of cortical malformations in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Porencephaly with microgyria: A pathologic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

GPR56 regulates pial basement membrane integrity and cortical lamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Septo-optic dysplasia plus: a spectrum of malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Polymicrogyria and absence of pineal gland due to PAX6 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Aicardi's syndrome - report of an autopsy case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Pelizaeus-Merzbacher disease in a brother and sister

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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/10.1002%2FAJMG.C.31399

SRPX2 mutations in disorders of language cortex and cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Inflammatory pathogenesis of cortical polymicrogyria: an autopsy study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

A locus for bilateral perisylvian polymicrogyria maps to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Periventricular nodular heterotopia with overlying polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31399

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31399

1 reference

26 June 2017

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