(Q34458337)

2 August 2017

Genotypically defined lissencephalies show distinct pathologies (English)

1 reference

2 August 2017

0 references

3

William B Dobyns

1 reference

2 August 2017

Mark S Forman

1

1 reference

PubMed ID

16215456

2 August 2017

Waney Squier

series ordinal

2

1 reference

PubMed ID

16215456

2 August 2017

Jeffrey A Golden

series ordinal

4

1 reference

2 August 2017

1 October 2005

1 reference

Journal of Neuropathology & Experimental Neurology

2 August 2017

1 reference

2 August 2017

64

1 reference

2 August 2017

10

1 reference

2 August 2017

847-857

1 reference

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

2 August 2017

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Diagnostic criteria for Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Lissencephaly and the molecular basis of neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Calcium signalling in the guidance of nerve growth by netrin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

Further comments on the lissencephaly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Role of the reelin signaling pathway in central nervous system development

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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/10.1097%2F01.JNEN.0000182978.56612.41

Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.JNEN.0000182978.56612.41

10.1097/01.JNEN.0000182978.56612.41

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

16215456