(Q34326750)

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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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

0 references

subcortical band heterotopia

1 reference

based on heuristic

inferred from title

William B. Dobyns

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Eden V Haverfield

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Amanda J Whited

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kristin S Petras

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Soma Das

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

3 December 2008

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

17

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

911-918

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.213

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2008.213

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Quality control of mRNA function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2008.213

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Band heterotopias: a newly recognized neuronal migration anomaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Clinical and molecular diagnosis of Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

Causal heterogeneity in isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.213

21 January 2018

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.213

21 January 2018

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

27 October 2018

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986498

27 October 2018

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

1 reference

https://pubmed.ncbi.nlm.nih.gov/19050731

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.213

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

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