Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

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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

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2016年學術文章

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Xq28 duplication including MEC ...... nosis and genetic counselling?

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Xq28 duplication including MEC ...... nosis and genetic counselling?

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Xq28 duplication including MEC ...... nosis and genetic counselling?

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P1476

Xq28 duplication including MEC ...... nosis and genetic counselling?

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D Martinet

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P2860

MeCP2, a key contributor to neurological disease, activates and represses transcription

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

The role of MeCP2 in brain development and neurodevelopmental disorders

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

P304

576-588

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scholarly article

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10.1111/CGE.12898

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2017-02-16T00:00:00Z

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27761913

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