(Q51956650)

18 April 2018

title

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (English)

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18 April 2018

Alpha-thalassemia mental retardation syndrome

main subject

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author

Laurent Villard

series ordinal

1

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author name string

Michel Fontes

series ordinal

2

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publication date

1 April 2002

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18 April 2018

European Journal of Human Genetics

published in

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18 April 2018

volume

10

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issue

4

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page(s)

223-225

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18 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200800

exact match

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cites work

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200800

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5200800

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18 April 2018

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18 April 2018