Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. (Q50777947)

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17 January 2020

title

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation (English)

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17 January 2020

4

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17 January 2020

Shin Hayashi

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17 January 2020

author name string

Shozo Honda

1

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17 January 2020

Shigeko Satomura

2

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17 January 2020

Eiji Nakagawa

5

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17 January 2020

Yu-ichi Goto

6

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17 January 2020

Johji Inazawa

7

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17 January 2020

Japanese Mental Retardation Consortium

8

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17 January 2020

publication date

1 December 2011

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Journal of Human Genetics

17 January 2020

published in

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17 January 2020

volume

57

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17 January 2020

issue

1

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17 January 2020

page(s)

73-77

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

17 January 2020

cites work

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Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

21 January 2018

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The MECP2 duplication syndrome.

21 January 2018

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

21 January 2018

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21 January 2018

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

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Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation

21 January 2018

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ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain

21 January 2018

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Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

21 January 2018

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ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

21 January 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

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Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

21 January 2018

1 reference

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