(Q51467838)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21543746%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome (English)

1 reference

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30 January 2020

0 references

1

1 reference

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30 January 2020

Helen Leonard

5

1 reference

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30 January 2020

6

Jenny Downs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21543746%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

author name string

Ami Bebbington

2

1 reference

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30 January 2020

Carolyn Ellaway

3

1 reference

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30 January 2020

Peter Rowe

4

1 reference

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30 January 2020

publication date

4 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21543746%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

30 January 2020

published in

1 reference

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30 January 2020

volume

26

1 reference

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30 January 2020

issue

8

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30 January 2020

page(s)

980-987

1 reference

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

30 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Abnormal general movements in girls with Rett disorder: the first four months of life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Is the early development of girls with Rett disorder really normal?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Perturbations in the development of infants with Rett disorder and the implications for early diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

How can the Internet help parents of children with rare neurologic disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

InterRett, a model for international data collection in a rare genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

The spectrum of phenotypes in females with Rett Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Refining the phenotype of common mutations in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811401396

21 January 2018

Identifiers

DOI

10.1177/0883073811401396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21543746%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference