(Q35636102)

9 August 2017

1 reference

title

Presence of filamin in the astrocytic inclusions of Aicardi syndrome (English)

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9 August 2017

author name string

Ignatia B Van den Veyver

1

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9 August 2017

Prisana P Panichkul

2

1 reference

9 August 2017

Barbra A Antalffy

3

1 reference

9 August 2017

Yaling Sun

4

1 reference

9 August 2017

Jill V Hunter

5

1 reference

9 August 2017

Dawna D Armstrong

6

1 reference

9 August 2017

publication date

1 January 2004

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9 August 2017

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9 August 2017

volume

30

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9 August 2017

issue

1

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9 August 2017

page(s)

7-15

1 reference

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

9 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Aicardi syndrome in two sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Electron microscopic study on a case of idiocy: astrocytes and mental deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Novel eosinophilic inclusion in astrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Peculiar eosinophilic inclusions within astrocytes in a patient with malformed brain

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Inclusion bodies in cerebral cortical astrocytes: a new change of astrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Unique astrocytic inclusion in a 2 month-old baby showing Leigh-like brain lesions with lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Structural and functional aspects of filamins

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Aicardi syndrome: postmortem findings

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Periventricular and subcortical nodular heterotopia. A study of 33 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Neuronal migration disorders: from genetic diseases to developmental mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

Human brain malformations and their lessons for neuronal migration

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900311-4

7 January 2021

10.1016/S0887-8994(03)00311-4

Identifiers

DOI

1 reference

9 August 2017

1 reference