Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations (Q34141668)

31 July 2017

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title

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations (English)

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31 July 2017

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2

Zoghbi HY

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31 July 2017

Amir RE

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31 July 2017

1 January 2000

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American Journal of Medical Genetics Part A

31 July 2017

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31 July 2017

97

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31 July 2017

2

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31 July 2017

147-152

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Rett syndrome. A commonly overlooked progressive encephalopathy in girls

31 July 2017

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Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq

21 January 2018

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

21 January 2018

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Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.

21 January 2018

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Studies on the 3-dimensional architecture of dendritic spines and varicosities in human cortex by confocal laser scanning microscopy and Lucifer yellow microinjections

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

21 January 2018

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Variable patterns of total DNA and rDNA methylation in animals.

21 January 2018

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Methylation-induced repression--belts, braces, and chromatin

21 January 2018

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Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome.

21 January 2018

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

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A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

21 January 2018

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

21 January 2018

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Rett's syndrome: characterization of respiratory patterns and sleep

21 January 2018

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Rett syndrome: clinical peculiarities, diagnostic approach, and possible cause

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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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Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes

21 January 2018

1 reference

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Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

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Recent insights into hyperventilation from the study of Rett syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Rett syndrome: a disorder affecting early brain growth

21 January 2018

1 reference

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MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

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

21 January 2018

1 reference

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DNA methylation and chromatin modification.

21 January 2018

1 reference

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A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

21 January 2018

1 reference

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Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28

21 January 2018

1 reference

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Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

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The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

1 reference

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Genetic aspects of Rett syndrome

21 January 2018

1 reference

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Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

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10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO;2-O

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11180222