The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. (Q36922496)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

title

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC: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:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

3

Peter Jacoby

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Sonĵa E Hall

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

Carolyn Ellaway

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

Laila Robertson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

publication date

1 March 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

volume

141B

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

177-183

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

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

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=2561209

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Investigating intellectual disability: a genetic perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Describing the phenotype in Rett syndrome using a population database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Behaviour problems in adult women with Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Behavioural and emotional features in Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Research in mental retardation: toward an etiologic approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

The hands, and the mind, pre- and post-regression, in Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome and the autistic disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

The Rett girls with preserved speech

29 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

29 September 2017

https://api.crossref.org/works/10.1002/AJMG.B.30270

Rett syndrome--clinical studies and pathophysiological consideration

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome: a survey of North American patients

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome: qualitative and quantitative differentiation from autism

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Atypical forms of Rett syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Aberrant sleep patterns in children with the Rett syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Refining the phenotype of common mutations in Rett syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome phenotype following infantile acute encephalopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Towards a behavioral phenotype for Rett syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Regression in individuals with Rett syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Rett syndrome in Spain: mutation analysis and clinical correlations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Measuring developmental and functional status in children with disabilities.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

The Developmental Behavior Checklist: the development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561209

Predictive value of the early clinical signs in Rett disorder

4 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Looking from the inside out: a parent's perspective

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 in adolescent and adult females: clinical and molecular genetic findings

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

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

1 reference

12 December 2020

Extrapyramidal involvement in Rett's syndrome

1 reference

12 December 2020

Emotional and behavioural aspects of Rett syndrome

1 reference

12 December 2020

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

The prevalence and incidence of Rett syndrome in Australia

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.B.30270

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16389588 AND SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

16389588

1 reference