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

Identification of the gene for Nance-Horan syndrome (NHS).

Journal of medical genetics - 1 Oct 2004

Brooks S P, Ebenezer N D, Poopalasundaram S, Lehmann O J, Moore A T, Hardcastle A J

Abstract excerpt

BACKGROUND: The disease intervals for Nance-Horan syndrome (NHS [MIM 302350]) and X linked congenital cataract (CXN) overlap on Xp22. OBJECTIVE: To identify the gene or genes responsible for these diseases. METHODS: Families with NHS were ascertained. The refined locus for CXN was used to focus the search for candidate genes, which were screened by polymerase chain reaction and direct sequencing of potential...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cataract
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Introns

Share to Nuclear Proteins

Share to Proteins

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 15466011
DOI: 10.1136/jmg.2004.022517
PMCID: PMC1735593

Genes

NHS
NHSL1

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

Identification of the gene for Nance-Horan syndrome (NHS).PMID 15466011Read ↗

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Semantic proximity Read ↗

Identification of three novel NHS mutations in families with Nance-Horan syndrome.Semantic proximity Read ↗

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.Semantic proximity Read ↗

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Semantic proximity Read ↗

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.Semantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.Semantic proximity Read ↗

A novel Xp22.13 microdeletion in Nance-Horan syndrome.Semantic proximity Read ↗

[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].Semantic proximity Read ↗

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.Semantic proximity Read ↗

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