(Q48693112)

14 February 2018

title

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

1 reference

14 February 2018

0 references

1 reference

Ishii T

1

1 reference

14 February 2018

Makita Y

2

1 reference

14 February 2018

Ogawa A

3

1 reference

14 February 2018

Amamiya S

4

1 reference

14 February 2018

Yamamoto M

5

1 reference

14 February 2018

Miyamoto A

6

1 reference

14 February 2018

Oki J

7

1 reference

14 February 2018

publication date

1 December 2001

1 reference

14 February 2018

published in

Brain and Development

1 reference

14 February 2018

volume

23 Suppl 1

1 reference

14 February 2018

page(s)

S161-4

1 reference

14 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

Japanese monozygotic twins with Rett syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

Classical Rett syndrome in sisters: variability of clinical expression

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

Parental origin of de novo MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900344-8

7 January 2021

10.1016/S0387-7604(01)00344-8

Identifiers

DOI

1 reference

14 February 2018

PubMed ID

11738865

1 reference

14 February 2018