(Q35273721)

7 August 2017

title

Describing the phenotype in Rett syndrome using a population database (English)

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7 August 2017

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Colvin L

1

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7 August 2017

Fyfe S

2

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7 August 2017

Leonard S

3

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7 August 2017

Schiavello T

4

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7 August 2017

Ellaway C

5

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7 August 2017

De Klerk N

6

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7 August 2017

Christodoulou J

7

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7 August 2017

Msall M

8

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7 August 2017

Leonard H

9

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7 August 2017

language of work or name

English

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publication date

1 January 2003

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Archives of Disease in Childhood

7 August 2017

published in

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7 August 2017

volume

88

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7 August 2017

issue

1

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7 August 2017

page(s)

38-43

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Rett syndrome: clinical correlates of the newly discovered gene

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Guidelines for reporting clinical features in cases with MECP2 mutations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Behavioural and emotional features in Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Prolonged QT interval in Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome: randomized controlled trial of L-carnitine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Diagnosis of Rett syndrome: can a radiograph help?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome studies of natural history and search for a genetic marker

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

The Functional Independence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome--clinical studies and pathophysiological consideration.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome--a review and discussion of syndrome delineation and syndrome definition.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Cognitive profile of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

The clinical recognition and differential diagnosis of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome in Sweden. Neurodevelopment--disability--pathophysiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome in Spain: mutation analysis and clinical correlations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Development of language in Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Medium-term open label trial of L-carnitine in Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

DHPLC analysis of the MECP2 gene in Italian Rett patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Occurrence of Rett syndrome in boys.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Epilepsy in a representative series of Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Interrater agreement and stability of the Functional Independence Measure for Children (WeeFIM): use in children with developmental disabilities.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett variants: a suggested model for inclusion criteria.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Rett syndrome--an early catecholamine and indolamine deficient disorder?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

Brief report: Cognitive and adaptive functioning in 28 girls with Rett syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719276

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

26 September 2018

1 reference

12 December 2020

1 reference

12 December 2020

Molecular and neurobiology aspects of Rett syndrome

1 reference

12 December 2020

The stability and equivalence reliability of the functional independence measure for children (WeeFIM)

1 reference

12 December 2020

Rett syndrome: epidemiology and geographical variability

1 reference

12 December 2020

The prevalence and incidence of Rett syndrome in Australia

1 reference

12 December 2020

Rett syndrome: analysis of deaths in the British survey

1 reference

12 December 2020

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography

1 reference

12 December 2020

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis

1 reference

12 December 2020

A population-based approach to the investigation of osteopenia in Rett syndrome

1 reference

12 December 2020

Head growth in Rett syndrome

1 reference

12 December 2020

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

1 reference

12 December 2020

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

1 reference

12 December 2020

MECP2 mutation screening in Swedish classical Rett syndrome females

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.88.1.38

1 reference

7 August 2017

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7 August 2017

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