(Q79845818)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16823396%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

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

1 reference

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26 December 2019

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7

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26 December 2019

author name string

Gun Peggy S Knudsen

1

1 reference

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26 December 2019

Tracey C S Neilson

2

1 reference

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26 December 2019

June Pedersen

3

1 reference

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26 December 2019

Alison Kerr

4

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26 December 2019

Marianne Schwartz

5

1 reference

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26 December 2019

Maj Hulten

6

1 reference

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26 December 2019

Karen Helene Orstavik

8

1 reference

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26 December 2019

publication date

5 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16823396%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

26 December 2019

published in

1 reference

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26 December 2019

volume

14

1 reference

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26 December 2019

issue

11

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26 December 2019

page(s)

1189-1194

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201682

26 December 2019

exact match

0 references

cites work

Clinical manifestations and stages of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

X chromosome inactivation in carriers of Barth syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

X chromosome-inactivation patterns in patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Predictive value of the early clinical signs in Rett disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Balanced X chromosome inactivation patterns in the Rett syndrome brain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Patterns of X chromosome inactivation in the Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

MeCP2 mutations in children with and without the phenotype of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Spectrum of MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Parental origin of de novo MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Twin study of genetic and aging effects on X chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201682

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201682

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16823396%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference