(Q48693129)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

K Amano

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Y Nomura

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

M Segawa

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

23 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

page(s)

S152-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

Rett syndrome: clinical peculiarities and biological mysteries

4 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

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/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

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%2900377-1

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%2900377-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

Preserved speech variant is allelic of classic Rett syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900377-1

7 January 2021

10.1016/S0387-7604(01)00377-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11738863%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference