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

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

Neurology - 13 Mar 2001

Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I

Abstract excerpt

OBJECTIVE: To discuss the diagnostic criteria for Rett syndrome based on mutational screening of the methyl-CpG-binding protein 2 gene ( MECP2 ) in patients with classic Rett syndrome and patients with Rett-like features. METHODS: Thirty-nine patients with classical Rett syndrome, one with preserved speech variant (PSV), and 12 patients with developmental delay and some features of Rett syndrome were recruited...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Dosage Compensation, Genetic

Share to Methyl-CpG-Binding Protein 2

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 11245712
DOI: 10.1212/wnl.56.5.611

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.PMID 11245712Read ↗

MeCP2 mutations in children with and without the phenotype of Rett syndrome.Semantic proximity Read ↗

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.Semantic proximity Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.Semantic proximity Read ↗

[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].Semantic proximity Read ↗

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.Semantic proximity Read ↗

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

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.Semantic proximity Read ↗

[Clinical features and MECP2 mutations in children with Rett syndrome].Semantic proximity Read ↗

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.Semantic proximity Read ↗

MECP2 mutations account for most cases of typical forms of Rett syndrome.Semantic proximity Read ↗

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.Semantic proximity Read ↗

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