(Q51955310)

18 April 2018

title

Expanding phenotype of XNP mutations: mild to moderate mental retardation. (English)

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18 April 2018

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8

Han G Brunner

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18 April 2018

author name string

Helger G Yntema

1

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18 April 2018

Francis A Poppelaars

2

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18 April 2018

Esther Derksen

3

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18 April 2018

Astrid R Oudakker

4

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18 April 2018

Tanja van Roosmalen

5

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18 April 2018

Anja Jacobs

6

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18 April 2018

Hanneke Obbema

7

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18 April 2018

Ben C J Hamel

9

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18 April 2018

Hans van Bokhoven

10

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18 April 2018

publication date

1 July 2002

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18 April 2018

American Journal of Medical Genetics Part A

published in

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volume

110

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page(s)

243-247

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18 April 2018

issue

3

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18 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

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%2FAJMG.10446

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

XNP mutation in a large family with Juberg-Marsidi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

Carpenter-Waziri syndrome results from a mutation in XNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10446

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%2FAJMG.10446

21 January 2018

Identifiers

DOI

10.1002/AJMG.10446

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18 April 2018

PubMed ID

12116232

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18 April 2018