InterRett, a model for international data collection in a rare genetic disorder (Q30717719)

20 August 2017

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

1 reference

20 August 2017

1 reference

2

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11 June 2020

Helen Leonard

13

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11 June 2020

7

Alan Percy

1 reference

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11 June 2020

4

Nadia Bahi-Buisson

1 reference

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11 June 2020

author name string

Sandra Louise

1

1 reference

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11 June 2020

Ami Bebbington

3

1 reference

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11 June 2020

Alison Anderson

5

1 reference

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11 June 2020

Mercé Pineda

6

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11 June 2020

Bruria Ben Zeev

8

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11 June 2020

Xi Ru Wu

9

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11 June 2020

Xinhua Bao

10

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11 June 2020

Patrick Mac Leod

11

1 reference

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11 June 2020

Judith Armstrong

12

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11 June 2020

publication date

1 July 2009

1 reference

Research in Autism Spectrum Disorders

20 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24348750%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

3

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11 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24348750%20AND%20SRC:MED&resulttype=core&format=json

FOXG1 is responsible for the congenital variant of Rett syndrome

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Rett syndrome: North American database

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Rett syndrome in Australia: a review of the epidemiology.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

The spectrum of phenotypes in females with Rett Syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Clinical manifestations and stages of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Socioeconomic differences in children's use of physician services in the Nordic countries

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Epidemiology of Rett syndrome: a population-based registry.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Refining the phenotype of common mutations in Rett syndrome.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Rett syndrome in Spain: mutation analysis and clinical correlations

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

DHPLC analysis of the MECP2 gene in Italian Rett patients

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

MECP2 mutations account for most cases of typical forms of Rett syndrome.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Rett variants: a suggested model for inclusion criteria

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3858578

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

25 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The prevalence and incidence of Rett syndrome in Australia

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

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

1 reference

12 December 2020

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype

1 reference

12 December 2020

Predictive value of the early clinical signs in Rett disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The incidence of Rett syndrome in France

1 reference

12 December 2020

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

1 reference

12 December 2020

10.1016/J.RASD.2008.12.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24348750%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24348750%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

24348750

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24348750%20AND%20SRC:MED&resulttype=core&format=json