(Q50312927)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17684768%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

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

1 reference

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3 January 2020

0 references

0 references

7

1 reference

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3 January 2020

Helen Leonard

9

1 reference

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3 January 2020

8

Walter E Kaufmann

1 reference

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3 January 2020

author name string

Deidra J Young

1

1 reference

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3 January 2020

Ami Bebbington

2

1 reference

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3 January 2020

Alison Anderson

3

1 reference

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3 January 2020

David Ravine

4

1 reference

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3 January 2020

Carolyn Ellaway

5

1 reference

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3 January 2020

Alpana Kulkarni

6

1 reference

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3 January 2020

publication date

8 August 2007

1 reference

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European Journal of Pediatrics

3 January 2020

published in

1 reference

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3 January 2020

volume

167

1 reference

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3 January 2020

issue

6

1 reference

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3 January 2020

page(s)

661-669

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00431-007-0569-x

3 January 2020

exact match

0 references

cites work

Identification of MeCP2 mutations in a series of females with autistic disorder

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-007-0569-X

Does genotype predict phenotype in Rett syndrome?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-007-0569-X

The Rett girls with preserved speech

21 January 2018

2 references

Crossref

https://api.crossref.org/works/10.1007%2FS00431-007-0569-X

21 January 2018

12 December 2020

Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication

1 reference

12 December 2020

Absence of MeCP2 mutations in patients from the South Carolina autism project

1 reference

12 December 2020

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome: qualitative and quantitative differentiation from autism.

1 reference

12 December 2020

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Predictors of seizure onset in Rett syndrome.

1 reference

12 December 2020

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

1 reference

12 December 2020

Is Rett syndrome a subtype of pervasive developmental disorders?

1 reference

12 December 2020

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

1 reference

12 December 2020

Study of MECP2 gene in Rett syndrome variants and autistic girls.

1 reference

12 December 2020

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

1 reference

12 December 2020

Features of autism in Rett syndrome and severe mental retardation.

1 reference

12 December 2020

Describing the phenotype in Rett syndrome using a population database

1 reference

12 December 2020

Behavioral treatment of Rett's disorder: ineffectiveness in three cases

1 reference

12 December 2020

Rett syndrome in Spain: mutation analysis and clinical correlations.

1 reference

12 December 2020

Rett syndrome and the autistic disorders.

1 reference

12 December 2020

Mutation analysis of methyl-CpG binding protein family genes in autistic patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The prevalence of autism in Australia. Can it be established from existing data?

1 reference

12 December 2020

The clinical recognition and differential diagnosis of 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

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

1 reference

12 December 2020

AUTISM AND RETT SYNDROME: BEHAVIOURAL INVESTIGATIONS AND DIFFERENTIAL DIAGNOSIS

1 reference

12 December 2020

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

1 reference

12 December 2020

People with MECP2 mutation-positive Rett disorder who converse.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome in Sweden.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Guidelines for reporting clinical features in cases with MECP2 mutations.

1 reference

12 December 2020

Behavioral observations concerning differential diagnosis between the Rett syndrome and autism.

1 reference

12 December 2020

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

1 reference

12 December 2020

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples

1 reference

12 December 2020

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

12 December 2020

Multiple imputation of missing blood pressure covariates in survival analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

1 reference

12 December 2020

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

1 reference

12 December 2020

Recent advances in the genetics of autism

1 reference

12 December 2020

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

1 reference

12 December 2020

Refining the phenotype of common mutations in Rett syndrome.

1 reference

12 December 2020

Autism and Rett syndrome: some notes on differential diagnosis.

1 reference

12 December 2020