Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. (Q53080986)

11 May 2018

http://europepmc.org/abstract/MED/25428820

title

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. (English)

1 reference

11 May 2018

http://europepmc.org/abstract/MED/25428820

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Anna Urbanowicz

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Natalie Ciccone

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Helen Leonard

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2

Jenny Downs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

26 November 2014

1 reference

11 May 2018

http://europepmc.org/abstract/MED/25428820

published in

American Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

167A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

354-362

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25428820%20AND%20SRC:MED&resulttype=core&format=json

Predictors of scoliosis in Rett syndrome.

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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.36871

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Using a large international sample to investigate epilepsy in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Early determinants of fractures in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Assessing early communication behaviours: structure and validity of the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS-DP) in 12-month-old infants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Rett variants: a suggested model for inclusion criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

People with MECP2 mutation-positive Rett disorder who converse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Early development and regression in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Resourceful and creative methods are necessary to research rare disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Reliability of parental recall of developmental milestones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Case report: Retracing atypical development: a preserved speech variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Changing the perspective on early development of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Onset patterns in autism: correspondence between home video and parent report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Assessing recall in mothers' retrospective reports: concerns over children's speech and language development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Development of language in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

The Rett girls with preserved speech

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871

Early identification of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36871