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

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Journal of medical genetics - 1 Dec 2001

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal Proteins, Non-Histone
Share to Exons
Share to Heteroduplex Analysis
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methyl-CpG-Binding Protein 2

Share to Mosaicism

Share to Repressor Proteins

Share to Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 11768391
DOI: 10.1136/jmg.38.12.867
PMCID: PMC1734775

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.PMID 11768391Read ↗

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.Semantic proximity Read ↗

Molecular diagnosis of Rett syndrome.Semantic proximity Read ↗

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.Semantic proximity Read ↗

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.Semantic proximity Read ↗

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.Semantic proximity Read ↗

Gene symbol: MECP2. Disease: Rett syndrome (atypical).Semantic proximity Read ↗

Rett syndrome and the MECP2 gene.Semantic proximity Read ↗

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.Semantic proximity Read ↗

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

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.Semantic proximity Read ↗

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.Semantic proximity Read ↗

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.Semantic proximity Read ↗

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