(Q55651787)

19 July 2018

title

Neuroimaging aspects of Aicardi syndrome. (English)

1 reference

19 July 2018

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Bobbi Hopkins

1

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19 July 2018

V Reid Sutton

2

1 reference

19 July 2018

Richard Alan Lewis

3

1 reference

19 July 2018

Ignatia Van den Veyver

4

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19 July 2018

Gary Clark

5

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19 July 2018

language of work or name

English

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publication date

1 November 2008

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19 July 2018

American Journal of Medical Genetics

published in

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19 July 2018

volume

146A

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19 July 2018

issue

22

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19 July 2018

page(s)

2871-2878

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19 July 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Magnetic resonance imaging of the brain in Aicardi's syndrome. Report of 20 patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

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)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Aicardi syndrome--the elusive mild case

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

A case of Aicardi syndrome with moderate psychomotor retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Multi-institutional survey of the Aicardi syndrome in Japan

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Aicardi syndrome in monozygotic twins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Cerebral developmental disorders

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

A developmental and genetic classification for malformations of cortical development

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Facial and physical features of Aicardi syndrome: infants to teenagers.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Presence of filamin in the astrocytic inclusions of Aicardi syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

A locus for bilateral perisylvian polymicrogyria maps to Xq28

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Callosal agenesis with cyst: a better understanding and new classification

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

MR of the cerebral operculum: topographic identification and measurement of interopercular distances in healthy infants and children

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

X-linked dominant inherited diseases with lethality in hemizygous males

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597151

Aicardi's syndrome in a male child: an unusual presentation

12 August 2018

1 reference

12 December 2020

Aicardi syndrome in a male infant

1 reference

12 December 2020

The Aicardi Syndrome in a 47, XXY Male

1 reference

12 December 2020

Aicardi syndrome in two sisters

1 reference

12 December 2020

Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002

1 reference

12 December 2020

Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32537

1 reference

19 July 2018

PMC publication ID

2597151

1 reference

19 July 2018

PubMed publication ID

18925666

1 reference

19 July 2018