Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. (Q51848344)

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scientific article published on 8 July 2010

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English	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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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)

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author name string

Shozo Honda

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Jun Toyama

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Hitoshi Okazawa

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Eiji Nakagawa

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Yu-Ichi Goto

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Johji Inazawa

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8 July 2010

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Journal of Human Genetics

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590-599

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

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X-linked mental retardation

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

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The genetic landscape of intellectual disability arising from chromosome X.

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

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

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

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

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

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

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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.

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

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

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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

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

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21 January 2018

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

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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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

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21 January 2018

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

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

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

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

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

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

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

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

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Rho GTPases, dendritic structure, and mental retardation

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

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

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PDZ domain proteins of synapses

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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

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

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