(Q43907846)

English

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.

scientific article published on 6 December 2012

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scholarly article

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PubMed publication ID

27 November 2017

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28. (English)

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Europe PubMed Central

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27 November 2017

Duchenne muscular dystrophy

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author name string

Thi Hoai Thu Tran

1

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27 November 2017

Zhujun Zhang

2

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27 November 2017

Mariko Yagi

3

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27 November 2017

Tomoko Lee

4

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27 November 2017

Hiroyuki Awano

5

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27 November 2017

Atsushi Nishida

6

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27 November 2017

Takeshi Okinaga

7

1 reference

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27 November 2017

Yasuhiro Takeshima

8

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27 November 2017

Masafumi Matsuo

9

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27 November 2017

publication date

6 December 2012

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27 November 2017

Journal of Human Genetics

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27 November 2017

58

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27 November 2017

1

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27 November 2017

33-39

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27 November 2017

https://scigraph.springernature.com/pub.10.1038/jhg.2012.131

0 references

The structural and functional diversity of dystrophin

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

X linked mental retardation: a clinical guide

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

The Eukaryotic Genome as an RNA Machine

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

The Long Non-Coding RNAs: A New (P)layer in the "Dark Matter"

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Long non-coding RNAs: insights into functions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Long noncoding RNAs in neuronal-glial fate specification and oligodendrocyte lineage maturation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Non-coding RNAs: regulators of disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Emerging Roles for Long Non-Coding RNAs in Cancer and Neurological Disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

NONCODE v3.0: integrative annotation of long noncoding RNAs

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Ending the message: poly(A) signals then and now

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Collection of mRNA-like non-coding RNAs

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

No-nonsense functions for long noncoding RNAs

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Noncoding RNAs in the mammalian central nervous system.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Specific expression of long noncoding RNAs in the mouse brain

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

A long noncoding RNA controls muscle differentiation by functioning as a competing endogenous RNA

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

21 January 2018

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.131

7 January 2021

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Identifiers

10.1038/JHG.2012.131

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

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