(Q48494390)

12 February 2018

title

Balanced X chromosome inactivation patterns in the Rett syndrome brain (English)

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12 February 2018

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3

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12 February 2018

author name string

Mona D Shahbazian

series ordinal

1

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12 February 2018

Yaling Sun

series ordinal

2

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12 February 2018

publication date

1 August 2002

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12 February 2018

American Journal of Medical Genetics Part A

published in

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12 February 2018

volume

111

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12 February 2018

issue

2

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12 February 2018

page(s)

164-168

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12 February 2018

The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10557

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

21 January 2018

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

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Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

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Preserved speech variant is allelic of classic Rett syndrome

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

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Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

21 January 2018

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Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

21 January 2018

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A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

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DHPLC analysis of the MECP2 gene in Italian Rett patients

21 January 2018

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MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

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MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

21 January 2018

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Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

21 January 2018

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Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

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Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10557

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10557

21 January 2018

Identifiers

DOI

10.1002/AJMG.10557

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12 February 2018

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12 February 2018