(Q37431830)

20 August 2017

Brief report: MECP2 mutations in people without Rett syndrome (English)

1 reference

20 August 2017

0 references

3

Huda Y Zoghbi

0 references

Jeffrey L. Neul

object named as

Jeffrey L Neul

series ordinal

5

0 references

Daniel G Glaze

series ordinal

4

object named as

Daniel G Glaze

1 reference

20 August 2017

Bernhard Suter

1

1 reference

20 August 2017

Diane Treadwell-Deering

series ordinal

2

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 March 2014

1 reference

Journal of Autism and Developmental Disorders

20 August 2017

1 reference

20 August 2017

44

1 reference

20 August 2017

3

1 reference

20 August 2017

703-711

1 reference

The relationship of Rett syndrome and MECP2 disorders to autism.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Rett syndrome: revised diagnostic criteria and nomenclature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Rett syndrome diagnostic criteria: lessons from the Natural History Study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

The story of Rett syndrome: from clinic to neurobiology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Rett syndrome: a prototypical neurodevelopmental disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

The spectrum of phenotypes in females with Rett Syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

The clinical recognition and differential diagnosis of Rett syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

AUTISM AND RETT SYNDROME: BEHAVIOURAL INVESTIGATIONS AND DIFFERENTIAL DIAGNOSIS

26 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

26 June 2018

https://pubmed.ncbi.nlm.nih.gov/23921973

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rett syndrome: qualitative and quantitative differentiation from autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Social impairments in Rett syndrome: characteristics and relationship with clinical severity.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Sequence variants within exon 1 of MECP2 occur in females with mental retardation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

MECP2 mutation analysis in patients with mental retardation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880396

10.1007/S10803-013-1902-Z

2 September 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23921973

1 reference