Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

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Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

P2860

Q53118141-59E5E88F-AE69-4129-86BB-59395883080C

P2860

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

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http://www.wikidata.org/entity/Q52144667

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@en

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@nl

type

Item

label

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@en

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@nl

prefLabel

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@en

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

@nl

P1476

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype

@en

P2093

Andrea Righini

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Cecilia Parazzini

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

Francesca Crosti

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

Gaetano Bulfamante

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

Laura Avagliano

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

Luigina Spaccini

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Mariangela Rustico

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

Serena Redaelli

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P2860

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

P304

1352-1357

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P31

scholarly article

P356

10.1002/AJMG.A.37594

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English

P433

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

P478

170A

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P50

Giorgio Conte

Claudia Cesaretti

P577

2016-02-10T00:00:00Z

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P698

26864752

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Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

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P2860

P2860

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

description

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698