Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered (Q36142055)

12 August 2017

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title

Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered (English)

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genotype-phenotype correlation

12 August 2017

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based on heuristic

inferred from title

subcortical band heterotopia

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based on heuristic

inferred from title

author name string

Richard Jacob Leventer

series ordinal

1

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PubMed ID

15921231

12 August 2017

language of work or name

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1 April 2005

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Journal of Child Neurology

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12 August 2017

20

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4

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12 August 2017

307-312

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Classification system for malformations of cortical development: update 2001.

12 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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/10.1177%2F08830738050200040701

LIS1: from cortical malformation to essential protein of cellular dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Doublecortin mutations cluster in evolutionarily conserved functional domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

Patient mutations in doublecortin define a repeated tubulin-binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200040701

10.1177/08830738050200040701

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

15921231