(Q57297413)

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5 January 2020

title

p.R270X MECP2 mutation and mortality in Rett syndrome (English)

1 reference

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5 January 2020

0 references

1

1 reference

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5 January 2020

Nicholas de Klerk

5

1 reference

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5 January 2020

John Christodoulou

6

1 reference

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5 January 2020

Mark E. S. Bailey

7

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5 January 2020

Helen Leonard

9

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5 January 2020

author name string

Hayley L Archer

2

1 reference

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5 January 2020

David Ravine

3

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5 January 2020

Alison Kerr

4

1 reference

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5 January 2020

Crystal Laurvick

8

1 reference

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5 January 2020

publication date

1 November 2005

1 reference

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European Journal of Human Genetics

5 January 2020

published in

1 reference

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5 January 2020

volume

13

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5 January 2020

issue

11

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5 January 2020

page(s)

1235-1238

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201479

5 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

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/10.1038%2FSJ.EJHG.5201479

Rett syndrome: the complex nature of a monogenic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Refining the phenotype of common mutations in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Describing the phenotype in Rett syndrome using a population database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Genotype and early development in Rett syndrome: the value of international data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Chronic daily headaches in pediatric neurology practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

InterRett--The application of bioinformatics to International Rett syndrome research.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

Predictive value of the early clinical signs in Rett disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

Looking from the inside out: a parent's perspective

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201479

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077729%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference