(Q51848344)

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Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

scientific article published on 8 July 2010

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scholarly article

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7 February 2020

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis (English)

1 reference

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7 February 2020

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7 February 2020

author name string

Shozo Honda

1

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7 February 2020

Jun Toyama

4

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7 February 2020

Hitoshi Okazawa

5

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7 February 2020

Eiji Nakagawa

6

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7 February 2020

Yu-Ichi Goto

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7 February 2020

Johji Inazawa

8

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7 February 2020

publication date

8 July 2010

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7 February 2020

Journal of Human Genetics

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590-599

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7 February 2020

https://scigraph.springernature.com/pub.10.1038/jhg.2010.74

0 references

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Nomenclature guidelines for X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

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.2010.74

21 January 2018

The genetic landscape of intellectual disability arising from chromosome X.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Rho GTPases, dendritic structure, and mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

PDZ domain proteins of synapses

1 reference

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21 January 2018

Homeobox genes in vertebrate forebrain development and disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.74

21 January 2018

High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes

1 reference

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7 January 2021

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