(Q38359244)

2 September 2017

title

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype (English)

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2 September 2017

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3

Andrew Chess

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2 September 2017

Abidemi A Adegbola

1

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2 September 2017

Michael L Gonzales

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2

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2 September 2017

Janine M LaSalle

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4

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2 September 2017

Gerald F Cox

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5

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2 September 2017

publication date

7 November 2008

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2 September 2017

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2 September 2017

volume

124

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2 September 2017

issue

6

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2 September 2017

page(s)

615-623

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

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0585-6

A Rett syndrome MECP2 mutation that causes mental retardation in men.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-008-0585-6

MECP2 abnormality phenotypes: clinicopathologic area with broad variability

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-008-0585-6

Occurrence of Rett syndrome in boys

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-008-0585-6

DNA methylation specifies chromosomal localization of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0585-6

Rett variants: a suggested model for inclusion criteria.

21 January 2018

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12 December 2020

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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12 December 2020

MeCP2 mutations in children with and without the phenotype of Rett syndrome

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12 December 2020

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice

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12 December 2020

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

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12 December 2020

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

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12 December 2020

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

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12 December 2020

Human non-synonymous SNPs: server and survey

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12 December 2020

Two affected boys in a Rett syndrome family: clinical and molecular findings

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12 December 2020

Functional consequences of Rett syndrome mutations on human MeCP2.

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12 December 2020

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

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12 December 2020

MeCP2, a key contributor to neurological disease, activates and represses transcription

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12 December 2020

Clinically relevant concentrations of valproic acid modulate melatonin MT(1) receptor, HDAC and MeCP2 mRNA expression in C6 glioma cells

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12 December 2020

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

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

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12 December 2020

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

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12 December 2020

Treatment of epilepsy in Rett syndrome.

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12 December 2020

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

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12 December 2020

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

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12 December 2020

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

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12 December 2020

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

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12 December 2020

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

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12 December 2020

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

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12 December 2020

Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

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12 December 2020

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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12 December 2020

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

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12 December 2020

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

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12 December 2020

MECP2 is highly mutated in X-linked mental retardation

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12 December 2020

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

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12 December 2020

Predicting deleterious amino acid substitutions

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12 December 2020

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

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12 December 2020

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

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12 December 2020

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

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12 December 2020

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

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12 December 2020

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

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12 December 2020

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family

1 reference

12 December 2020

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

1 reference

12 December 2020

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

1 reference

12 December 2020

10.1007/S00439-008-0585-6

Identifiers

DOI

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Dimensions Publication ID

2 September 2017

1030814750

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