(Q84977804)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815036%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome (English)

1 reference

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13 February 2020

1 reference

1

1 reference

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13 February 2020

Helen Leonard

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815036%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2

Jenny Downs

1 reference

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13 February 2020

author name string

Ami Bebbington

series ordinal

3

1 reference

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13 February 2020

publication date

1 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815036%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

13 February 2020

published in

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13 February 2020

volume

152A

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13 February 2020

issue

10

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13 February 2020

page(s)

2535-2542

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Disparities in diagnoses received prior to a diagnosis of autism spectrum disorder

13 February 2020

cites work

1 reference

12 December 2020

Nurse recognition of early deviation in development in home videos of infants with Rett disorder.

1 reference

12 December 2020

How can the Internet help parents of children with rare neurologic disorders?

1 reference

12 December 2020

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

Is the early development of girls with Rett disorder really normal?

1 reference

12 December 2020

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

1 reference

12 December 2020

Factors associated with age of diagnosis among children with autism spectrum disorders

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12 December 2020

The prevalence and incidence of Rett syndrome in Australia

1 reference

12 December 2020

The Rett girls with preserved speech

1 reference

12 December 2020

Into a SEIFA SES cul-de-sac?

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Racial/ethnic disparities in the identification of children with autism spectrum disorders.

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal general movements in girls with Rett disorder: the first four months of life.

1 reference

12 December 2020

Rett syndrome--natural history in 70 cases

1 reference

12 December 2020

Rett syndrome: the late infantile regression period--a retrospective analysis of 91 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Rare disease surveillance

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12 December 2020

Socioeconomic status in health research: one size does not fit all.

1 reference

12 December 2020

Rett syndrome in Australia: a review of the epidemiology.

1 reference

12 December 2020

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

1 reference

12 December 2020

No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiorespiratory challenges in Rett's syndrome

1 reference

12 December 2020

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

1 reference

12 December 2020

Rett syndrome: a retrospective pilot study on potential early predictive symptomatology.

1 reference

12 December 2020

Race differences in the age at diagnosis among medicaid-eligible children with autism.

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

Refining the phenotype of common mutations in Rett syndrome.

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815036%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

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13 February 2020

PubMed publication ID

20815036

1 reference