(Q51935037)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15578581%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

MECP2 mutation analysis in patients with mental retardation (English)

1 reference

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5 January 2020

8

1 reference

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5 January 2020

Irma Järvelä

10

1 reference

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5 January 2020

author name string

Tero Ylisaukko-Oja

1

1 reference

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5 January 2020

Karola Rehnström

2

1 reference

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5 January 2020

Raija Vanhala

3

1 reference

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5 January 2020

Elli Kempas

4

1 reference

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5 January 2020

Harriet von Koskull

5

1 reference

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5 January 2020

Carola Tengström

6

1 reference

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5 January 2020

Aki Mustonen

7

1 reference

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5 January 2020

Jaana Lähdetie

9

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5 January 2020

language of work or name

English

0 references

publication date

1 January 2005

1 reference

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American Journal of Medical Genetics

5 January 2020

published in

1 reference

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5 January 2020

volume

132A

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5 January 2020

issue

2

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5 January 2020

page(s)

121-124

1 reference

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

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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%2FAJMG.A.30416

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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%2FAJMG.A.30416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

MECP2 mutation in a boy with language disorder and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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%2FAJMG.A.30416

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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%2FAJMG.A.30416

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

DHPLC analysis of the MECP2 gene in Italian Rett patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

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%2FAJMG.A.30416

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%2FAJMG.A.30416

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416

Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30416