Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis (Q30597738)

25 June 2017

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title

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis (English)

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subcortical band heterotopia

25 June 2017

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5

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25 June 2017

Leventer RJ

1

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25 June 2017

Pilz DT

series ordinal

2

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Matsumoto N

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3

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Ledbetter DH

series ordinal

4

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publication date

1 July 2000

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Trends in Molecular Medicine

25 June 2017

published in

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volume

6

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25 June 2017

issue

7

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25 June 2017

page(s)

277-284

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

25 June 2017

cites work

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Genetic and neuroradiological heterogeneity of double cortex syndrome

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Epidemiology of Lissencephaly Type I

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Platelet-Activating Factor Receptor Stimulation Disrupts Neuronal MigrationIn Vitro

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Platelet-activating factor produces neuronal growth cone collapse

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

LIS1 is a microtubule-associated phosphoprotein

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Nuclear migration, nucleokinesis and lissencephaly

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Causal heterogeneity in isolated lissencephaly

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Doublecortin, a stabilizer of microtubules

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

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https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1357-4310(00)01730-5

7 January 2021

10.1016/S1357-4310(00)01730-5

Identifiers

DOI

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25 June 2017

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