(Q51902328)

17 April 2018

title

Partial duplications of the ATRX gene cause the ATR-X syndrome. (English)

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17 April 2018

author

Bernard Thienpont

1

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17 April 2018

Joris R Vermeesch

6

object named as

Joris Robert Vermeesch

1 reference

17 April 2018

Thomy de Ravel

2

object named as

Thomy de Ravel

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17 April 2018

author name string

Hilde Van Esch

3

1 reference

17 April 2018

Dominique Van Schoubroeck

4

1 reference

17 April 2018

Philippe Moerman

5

1 reference

17 April 2018

Jean-Pierre Fryns

7

1 reference

17 April 2018

Guy Froyen

8

1 reference

17 April 2018

Caroline Lacoste

9

1 reference

17 April 2018

Catherine Badens

10

1 reference

17 April 2018

Koen Devriendt

11

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17 April 2018

publication date

20 June 2007

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17 April 2018

European Journal of Human Genetics

published in

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17 April 2018

volume

15

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17 April 2018

issue

10

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17 April 2018

page(s)

1094-1097

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17 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201878

exact match

0 references

cites work

Alpha thalassaemia-mental retardation, X linked

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

21 January 2018

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

21 January 2018

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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.5201878

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201878

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201878

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

21 January 2018

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Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.

21 January 2018

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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

21 January 2018

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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201878

Duplications in the DMD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201878

inferred from DOI database lookup

7 January 2021

based on heuristic

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201878

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201878

1 reference

17 April 2018

PubMed ID

17579672

1 reference

17 April 2018