(Q34262510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Helen Leonard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Deidra Young

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Ami Bebbington

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Carol Bower

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Lakshmi Nagarajan

5

1 reference

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15 January 2020

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

Research in Autism Spectrum Disorders

15 January 2020

published in

1 reference

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15 January 2020

volume

5

1 reference

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15 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

442-449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database.

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Gross motor profile in rett syndrome as determined by video analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

What do we really know about the transition to adult-centered health care? A focus on cerebral palsy and spina bifida

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Predictors of seizure onset in Rett syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Rett syndrome in Australia: a review of the epidemiology.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Health service use in Rett syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Rett syndrome: clinical review and genetic update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Rett syndrome: the complex nature of a monogenic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Describing the phenotype in Rett syndrome using a population database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Guidelines for reporting clinical features in cases with MECP2 mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Evaluation of a national surveillance unit

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

The diagnosis of autism in a female: could it be Rett syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Predictors of scoliosis in Rett syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Refining the phenotype of common mutations in Rett syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Rett syndrome in Spain: mutation analysis and clinical correlations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Feeding Experiences and Growth Status in a Rett Syndrome Population

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

p.R270X MECP2 mutation and mortality in Rett syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2968739

Is the girl with Rett syndrome normal at birth?

28 October 2018

1 reference

12 December 2020

Commentary: three decades of the inverse care law

1 reference

12 December 2020

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

1 reference

12 December 2020

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome and long-term disorder profile

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome in females with CTS hot spot deletions: a disorder profile

1 reference

12 December 2020

Aging in people with specific genetic syndromes: Rett syndrome

1 reference

12 December 2020

10.1016/J.RASD.2010.06.007

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21057653%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

21057653

1 reference