Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype (Q34733527)

4 August 2017

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title

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype (English)

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4 August 2017

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Hoffbuhr KC

1

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4 August 2017

Moses LM

2

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4 August 2017

Jerdonek MA

3

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4 August 2017

Naidu S

4

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4 August 2017

Hoffman EP

5

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4 August 2017

1 January 2002

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Mental Retardation and Developmental Disabilities Research Reviews

4 August 2017

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4 August 2017

8

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4 August 2017

2

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4 August 2017

99-105

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Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

4 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

X-chromosome inactivation: counting, choice and initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Rett syndrome: clinical update and review of recent genetic advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Rett variants: a suggested model for inclusion criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Male Rett syndrome variant: application of diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Rett syndrome: a disorder affecting early brain growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Social facilitation of object-oriented hand use in a Rett syndrome variant girl: implications for partial preservation of an hypothesized specialized cerebral network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

X chromosome linkage studies in familial Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FMRDD.10026

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

21 January 2018

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https://api.crossref.org/works/10.1002%2FMRDD.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10026

21 January 2018

Identifiers

DOI

10.1002/MRDD.10026

1 reference

4 August 2017

1 reference