(Q57847789)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Alice Baxová

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jiri Zeman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Pavel Martásek

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Robert Rosipal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jan Hadac

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Alena Zumrova

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Vladimir Bzduch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Nadezda Misovicova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

15 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

342-348

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10038-007-0121-x

28 December 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1 reference

12 December 2020

Guidelines for reporting clinical features in cases with MECP2 mutations.

1 reference

12 December 2020

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

12 December 2020

Preserved speech variant is allelic of classic Rett syndrome

1 reference

12 December 2020

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

1 reference

12 December 2020

Methyl-CpG-binding protein 2 mutations in Rett syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

1 reference

12 December 2020

On a unusual brain atrophy syndrome in hyperammonemia in childhood

1 reference

12 December 2020

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

1 reference

12 December 2020

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

1 reference

12 December 2020

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

1 reference

12 December 2020

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

1 reference

12 December 2020

Mutation analysis of the MECP2 gene in patients with Rett syndrome

1 reference

12 December 2020

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

1 reference

12 December 2020

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

12 December 2020

Rett syndrome: natural history and underlying disease mechanisms

1 reference

12 December 2020

Clinical delineation of Rett syndrome variants

1 reference

12 December 2020

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

MECP2 mutation screening in Swedish classical Rett syndrome females

1 reference

12 December 2020

MECP2 is highly mutated in X-linked mental retardation.

1 reference

12 December 2020

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

12 December 2020

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome: clinical manifestations in males with MECP2 mutations.

1 reference

12 December 2020

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

1 reference

12 December 2020

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

1 reference

12 December 2020

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

1 reference

12 December 2020

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

1 reference

12 December 2020

10.1007/S10038-007-0121-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387578%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference