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

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency

14 Oct 2005

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 Autoimmune Bullous Skin Diseases
Share to Genetic and rare skin diseases.
Share to Skin and Cellular Biology Research

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 16228229
DOI: 10.1007/s00439-005-0068-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiencyPMID 16228229Read ↗

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.Semantic proximity Read ↗

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).Semantic proximity Read ↗

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).Semantic proximity Read ↗

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.Semantic proximity Read ↗

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.Semantic proximity Read ↗

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.Semantic proximity Read ↗

A case of incontinentia pigmenti in Japan and its genetic examination.Semantic proximity Read ↗

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmentiSemantic proximity Read ↗

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiencySemantic proximity Read ↗

[From gene to disease; incontinentia pigmenti and the NEMO-gene].Semantic proximity Read ↗

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