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 mutations in Serbian Rett syndrome patients.

Acta neurologica Scandinavica - 1 Dec 2007

Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S

Abstract excerpt

BACKGROUND: Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. Eight years ago, the MECP2 gene was associated with the devastating clinical features observed in Rett syndrome patients. OBJECTIVES: To investigate the spectrum and the frequency of MECP2 mutations in Serbian Rett syndrome patients. PATIENTS AND METHODS: We screened the MECP2 coding region by...

Read the complete abstract on PubMed

Topics

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

Share to Ethnicity
Share to Gene Dosage
Share to Methyl-CpG-Binding Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Predictive Value of Tests

Share to Rett Syndrome

Share to Sensitivity and Specificity

Share to Sex Factors

Share to Yugoslavia

Source

Identifiers

PMID: 17986102
DOI: 10.1111/j.1600-0404.2007.00893.x

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 mutations in Serbian Rett syndrome patients.PMID 17986102Read ↗

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

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

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

MECP2 Mutations in the Rett Syndrome Patients from South India.Semantic proximity Read ↗

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.Semantic proximity Read ↗

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

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.Semantic proximity Read ↗

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.Semantic proximity Read ↗

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.Semantic proximity Read ↗

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.Semantic proximity Read ↗

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

DHPLC analysis of the MECP2 gene in Italian Rett patients.Semantic proximity Read ↗

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