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

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

The British journal of ophthalmology - 1 Aug 2005

Goverdhan S V, Temple I K, Self J, Lotery A J, Dixon M J, Evans A R

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 Macular Degeneration
Share to Mandibulofacial Dysostosis
Share to Mutation
Share to Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phosphoproteins

Source

Open in PubMed Open full text

Identifiers

PMID: 16024866
DOI: 10.1136/bjo.2004.064139
PMCID: PMC1772761

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

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.PMID 16024866Read ↗

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.Semantic proximity Read ↗

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].Semantic proximity Read ↗

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.Semantic proximity Read ↗

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.Semantic proximity Read ↗

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndromeSemantic proximity Read ↗

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.Semantic proximity Read ↗

Treacher Collins syndrome: Unmasking the role of Tcof1/treacleSemantic proximity Read ↗

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Semantic proximity Read ↗

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.Semantic proximity Read ↗

A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins SyndromeSemantic proximity Read ↗

Rare Genetic Variants in Age-Related Macular Degeneration.Semantic proximity Read ↗

De novo TCOF1 mutation in Treacher Collins syndrome.Semantic proximity Read ↗

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