(Q35584759)

9 August 2017

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis (English)

1 reference

9 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jeffrey L. Neul

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

16

Alan K Percy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

8

Walter E Kaufmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

10

Daniel G Glaze

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Wei Hou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jane B Lane

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Katherine V Barnes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Heather M O'Leary

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Natalie M Bruck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Kathleen J Motil

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Steven A Skinner

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Fran Annese

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Lauren Baggett

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Judy O Barrish

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Suzanne P Geerts

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

16 February 2015

1 reference

9 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

6

1 reference

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7 June 2020

page(s)

585-91.e2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

Developmental delay in Rett syndrome: data from the natural history study

7 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=4442062

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity 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=4442062

Growth failure and outcome in Rett syndrome: specific growth references

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women 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=4442062

Trends in the diagnosis of Rett syndrome in Australia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Rett syndrome: revised diagnostic criteria and nomenclature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Specific mutations in methyl-CpG-binding protein 2 confer different severity 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=4442062

Trends in age at diagnosis of Turner 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=4442062

Rett syndrome: of girls and mice--lessons for regression in autism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Clinical manifestations and stages 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=4442062

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=4442062

Behavioral training of a young women 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=4442062

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=4442062

Rett syndrome: Criteria for inclusion and exclusion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

The role of therapy 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=4442062

Characteristics of motor disturbances of the 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=4442062

The Denver II: a major revision and restandardization of the Denver Developmental Screening Test

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Altered attainment of developmental milestones influences the age of 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=4442062

Further genotype--phenotype correlations in neurofibromatosis 2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Gastrostomy placement improves height and weight gain in 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=4442062

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Assistive technology and supplementary treatment for individuals 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=4442062

Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Rett syndrome. Guidelines for individual intervention.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Delayed diagnosis of fragile X syndrome--United States, 1990-1999.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Family experiences and factors associated with the diagnosis of fragile X 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=4442062

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442062

Music therapy for children with Rett syndrome

26 September 2018

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

Developmental surveillance and screening of infants and young children

1 reference

12 December 2020

Clinical delineation of Rett syndrome variants

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.PEDIATRNEUROL.2015.02.007

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25801175%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference