Do regulatory regions matter in FOXG1 duplications? - Wikidata - awgldk - TriplyDB

Do regulatory regions matter in FOXG1 duplications?

Do regulatory regions matter in FOXG1 duplications?

http://www.wikidata.org/entity/Q43228332

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

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Do regulatory regions matter in FOXG1 duplications?

http://www.wikidata.org/entity/Q43228332

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

@zh-cn

2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

Do regulatory regions matter in FOXG1 duplications?

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Do regulatory regions matter in FOXG1 duplications?

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type

label

Do regulatory regions matter in FOXG1 duplications?

@en

Do regulatory regions matter in FOXG1 duplications?

@nl

prefLabel

Do regulatory regions matter in FOXG1 duplications?

@en

Do regulatory regions matter in FOXG1 duplications?

@nl

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European Journal of Human Genetics

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Do regulatory regions matter in FOXG1 duplications?

@en

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Antonello Mallamaci

http://www.w3.org/2001/XMLSchema#string

Antonio Falace

http://www.w3.org/2001/XMLSchema#string

Federico Zara

http://www.w3.org/2001/XMLSchema#string

Nicola Vanni

http://www.w3.org/2001/XMLSchema#string

Pasquale Striano

http://www.w3.org/2001/XMLSchema#string

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The ENCODE (ENCyclopedia Of DNA Elements) Project

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Questionable pathogenicity of FOXG1 duplication.

Emx2 and Foxg1 inhibit gliogenesis and promote neuronogenesis.

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10.1038/EJHG.2012.142

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4

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21

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1013442162

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