(Q37004830)

English

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

scientific article published on 11 August 2006

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scholarly article

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28 December 2019

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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation (English)

1 reference

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28 December 2019

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28 December 2019

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28 December 2019

John Christodoulou

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28 December 2019

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28 December 2019

Mark E. S. Bailey

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28 December 2019

Nicholas de Klerk

11

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28 December 2019

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Hayley Archer

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28 December 2019

Julie Evans

2

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28 December 2019

David Ravine

5

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28 December 2019

Sarah Williamson

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28 December 2019

Julian Sampson

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28 December 2019

Angus Clarke

12

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28 December 2019

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11 August 2006

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28 December 2019

Journal of Medical Genetics

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28 December 2019

44

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28 December 2019

2

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28 December 2019

148-152

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28 December 2019

People with MECP2 mutation-positive Rett disorder who converse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Rett syndrome in Australia: a review of the epidemiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Does genotype predict phenotype in Rett syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Describing the phenotype in Rett syndrome using a population database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Parental origin of de novo MECP2 mutations in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

27 June 2018

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Trisomy 21 and Rett syndrome: a double burden

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Refining the phenotype of common mutations in Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

MECP2 mutations account for most cases of typical forms of Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 December 2018

p.R270X MECP2 mutation and mortality in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598067

4 December 2018

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16905679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/16905679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A two step model for mammalian X-chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16905679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16905679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.045260

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28 December 2019

release_lcxujitd35f3dhwgi7xckc6ahm

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24 November 2022

based on heuristic

mapped directly with Wikidata item

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Europe PubMed Central

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28 December 2019

1 reference

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28 December 2019

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