Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Brain & development - 1 Dec 2001

Ishii T, Makita Y, Ogawa A, Amamiya S, Yamamoto M, Miyamoto A, Oki J

Abstract excerpt

A gene for Methyl-CpG binding protein 2 (MECP2), which locates Xq28, was recently found to be responsible for Rett syndrome. Although mutational analyses of MECP2 in Rett syndrome have been extensively analyzed, the mechanism(s) by which variable clinical phenotype occurred between affected monozygotic twins or sisters have not been clarified. We hypothesized that the difference of X-inactivation pattern might...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dosage Compensation, Genetic
Share to Allelic Imbalance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomal Proteins, Non-Histone

Share to Methyl-CpG-Binding Protein 2

Share to Point Mutation

Share to Repressor Proteins

Share to Rett Syndrome

Share to Twins, Monozygotic

Source

Identifiers

PMID: 11738865
DOI: 10.1016/s0387-7604(01)00344-8

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.PMID 11738865Read ↗

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.Semantic proximity Read ↗

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.Semantic proximity Read ↗

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.Semantic proximity Read ↗

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].Semantic proximity Read ↗

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

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.Semantic proximity Read ↗

Genetic basis of Rett syndrome.Semantic proximity Read ↗

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

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.Semantic proximity Read ↗

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.Semantic proximity Read ↗

Two novel mutations in the MECP2 gene in patients with Rett syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.