Molecular-clinical spectrum of the ATR-X syndrome (Q34306141)

1 August 2017

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title

Molecular-clinical spectrum of the ATR-X syndrome (English)

1 reference

1 August 2017

Gibbons RJ

1

1 reference

PubMed ID

11449489

1 August 2017

Higgs DR

series ordinal

2

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1 August 2017

1 January 2000

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American Journal of Medical Genetics Part A

1 August 2017

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1 August 2017

97

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1 August 2017

3

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1 August 2017

204-212

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Germline and gonosomal mosaicism in the ATR-X syndrome.

1 August 2017

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

The SNF/SWI family of global transcriptional activators

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

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/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

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/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

XNP mutation in a large family with Juberg-Marsidi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Carpenter-Waziri syndrome results from a mutation in XNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C204%3A%3AAID-AJMG1038%3E3.0.CO%3B2-X

10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11449489