(Q30826834)

26 June 2017

title

The genetics of lissencephaly (English)

1 reference

26 June 2017

0 references

Andrew E Fry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

23 May 2014

1 reference

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

26 June 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

166C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

198-210

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

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

5 June 2020

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Trekking across the brain: the journey of neuronal migration

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New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

21 January 2018

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Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

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

21 January 2018

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The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging

21 January 2018

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Doublecortin recognizes the 13-protofilament microtubule cooperatively and tracks microtubule ends

21 January 2018

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

21 January 2018

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

21 January 2018

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Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

21 January 2018

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

21 January 2018

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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

21 January 2018

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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

21 January 2018

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Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

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The role of RELN in lissencephaly and neuropsychiatric disease

21 January 2018

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

21 January 2018

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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

21 January 2018

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21 January 2018

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Epidemiology of Lissencephaly Type I

21 January 2018

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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

21 January 2018

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A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

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The human reelin gene: isolation, sequencing, and mapping on chromosome 7.

21 January 2018

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Causal heterogeneity in isolated lissencephaly

21 January 2018

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

21 January 2018

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Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

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Lissencephaly and other malformations of cortical development: 1995 update

21 January 2018

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

21 January 2018

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Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome

21 January 2018

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Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

21 January 2018

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Genotypically defined lissencephalies show distinct pathologies

21 January 2018

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Cajal-Retzius cells, Reelin, and the formation of layers

21 January 2018

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New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

21 January 2018

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

21 January 2018

1 reference

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A role of MAP1B in Reelin-dependent neuronal migration

21 January 2018

1 reference

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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

21 January 2018

1 reference

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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

21 January 2018

1 reference

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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

21 January 2018

1 reference

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Lissencephaly and the molecular basis of neuronal migration

21 January 2018

1 reference

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Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy

21 January 2018

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Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

21 January 2018

1 reference

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

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Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

LIS1: from cortical malformation to essential protein of cellular dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

LISSENCEPHALY IN 2 SIBLINGS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Cytoskeleton in action: lissencephaly, a neuronal migration disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Distinct roles of doublecortin modulating the microtubule cytoskeleton.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

The actin gene family: function follows isoform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

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.31402

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.31402

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Doublecortin mutations cluster in evolutionarily conserved functional domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

The phenotypic spectrum of ARX mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Patient mutations in doublecortin define a repeated tubulin-binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Involvement of platelet-activating factor and LIS1 in neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31402

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24862549%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference