(Q48160883)

9 February 2018

title

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia (English)

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

25 March 2024

1

1 reference

9 February 2018

Davide Mei

5

object named as

D. Mei

1 reference

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25 March 2024

author name string

A. Kelemen

2

1 reference

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25 March 2024

P. Genton

3

1 reference

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25 March 2024

S. Das

4

1 reference

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25 March 2024

F. Moro

6

1 reference

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25 March 2024

W. B. Dobyns

7

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25 March 2024

R. Guerrini

8

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25 March 2024

language of work or name

English

0 references

publication date

1 October 2003

1 reference

9 February 2018

28 October 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14581661

full work available at URL

25 March 2024

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.61.8.1042

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

25 March 2024

1 reference

9 February 2018

volume

61

1 reference

9 February 2018

issue

8

1 reference

9 February 2018

page(s)

1042-1046

1 reference

9 February 2018

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

cites work

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X-linked malformations of neuronal migration

25 March 2024

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

25 March 2024

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

25 March 2024

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1 reference

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

25 March 2024

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Genetic and neuroradiological heterogeneity of double cortex syndrome

25 March 2024

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1 reference

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

25 March 2024

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1 reference

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

25 March 2024

9

1 reference

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

25 March 2024

10

1 reference

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DNAzol: a reagent for the rapid isolation of genomic DNA.

25 March 2024

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Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

25 March 2024

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Denaturing high-performance liquid chromatography: A review

25 March 2024

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Classification system for malformations of cortical development: update 2001.

25 March 2024

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

25 March 2024

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

25 March 2024

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

25 March 2024

18

1 reference

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

25 March 2024

19

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

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

25 March 2024

20

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

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

25 March 2024

21

1 reference

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

25 March 2024

22

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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

25 March 2024

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The pleckstrin homology domain of human beta I sigma II spectrin is targeted to the plasma membrane in vivo

25 March 2024

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The WD repeat: a common architecture for diverse functions

25 March 2024

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

25 March 2024

26

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

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

25 March 2024

27

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

25 March 2024

28

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

Low level mosaicism detectable by DHPLC but not by direct sequencing

25 March 2024

29

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

25 March 2024

30

1 reference

https://api.crossref.org/works/10.1212/WNL.61.8.1042

25 March 2024

Identifiers

1 reference

9 February 2018

1 reference

9 February 2018