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

DHPLC analysis of the MECP2 gene in Italian Rett patients.

Human mutation - 1 Aug 2001

Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli M L, Vacca M, Della Regione F, Piva S, Bortoluzzi S, Gasparini P

Abstract excerpt

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic in origin, and are due to de novo mutations. We collected DNA...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Methyl-CpG-Binding Protein 2

Share to Nucleic Acid Denaturation

Share to Rett Syndrome

Share to Sex Ratio

Source

Identifiers

PMID: 11462237
DOI: 10.1002/humu.1162

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

DHPLC analysis of the MECP2 gene in Italian Rett patients.PMID 11462237Read ↗

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.Semantic proximity Read ↗

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

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.Semantic proximity Read ↗

MECP2 gene mutation analysis in Chinese patients with Rett syndrome.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 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 ↗

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

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

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases 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 British and Italian Rett syndrome females.Semantic proximity Read ↗

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