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

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

American journal of medical genetics. Part A - 15 Apr 2004

Schanen Carolyn, Houwink Elisa J F, Dorrani Naghmeh, Lane Jane, Everett Ruth, Feng Alice, Cantor Rita M, Percy Alan

Abstract excerpt

Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations. These studies have produced conflicting results in part related to use of different clinical severity scales, different diagno...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Chromosomal Proteins, Non-Histone
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methyl-CpG-Binding Protein 2

Share to Mutation, Missense

Share to Repressor Proteins

Share to Rett Syndrome

Share to Severity of Illness Index

Source

Identifiers

PMID: 15057977
DOI: 10.1002/ajmg.a.20571

Genes

MECP2
TRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15057977-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.PMID 15057977Read ↗

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Semantic proximity Read ↗

Does genotype predict phenotype in Rett syndrome?Semantic proximity Read ↗

Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.Semantic proximity Read ↗

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

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

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.Semantic proximity Read ↗

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.Semantic proximity Read ↗

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

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Semantic proximity Read ↗

Atypical features in MECP2 P152R-associated Rett syndrome.Semantic proximity Read ↗

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.Semantic proximity Read ↗

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

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