A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

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Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Comprehensive genotype-phenotype correlation in lissencephaly

P2860

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A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

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http://www.wikidata.org/entity/Q52640558

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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name

A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.

@en

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1

@nl

type

Item

label

A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.

@en

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1

@nl

prefLabel

A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.

@en

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1

@nl

P1476

A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.

@en

P2093

Beate Betz

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

Brigitte Royer-Pokora

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

Jörg Schaper

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

Manfred Beier

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

Matthias Drechsler

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

Michael Karenfort

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

Natalie Nickel

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

Sabrina Classen

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

Timm Goecke

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P2860

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

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

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

Increased LIS1 expression affects human and mouse brain development

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

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

P304

1453-1458

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scholarly article

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10.1002/AJMG.A.35904

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English

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P478

161A

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P577

2013-04-30T00:00:00Z

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P698

23633430

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P921

lissencephaly

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

about

P2860

P2860

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P921

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P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P921