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 clinical molecular genetic service for United Kingdom families with choroideraemia.

European journal of medical genetics - 1 Aug 2013

Ramsden Simon C, O'Grady Anna, Fletcher Tracy, O'Sullivan James, Hart-Holden Nikki, Barton Stephanie J, Hall Georgina, Moore Anthony T, Webster Andrew R, Black Graeme C

Abstract excerpt

A diagnosis of choroideraemia (CHM) can be made clinically, based on the fundus examination and a family history consistent with X-linked inheritance. Molecular genetic testing offers a means of confirming the clinical diagnosis, establishing carrier status and allows presymptomatic diagnosis for families who wish to pursue these options. The aim of this study was to examine the uptake and assess the results from...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Choroideremia

Share to Genetic Counseling

Share to Genetic Testing

Share to Heterozygote

Share to Pedigree

Share to United Kingdom

Source

Identifiers

PMID: 23811034
DOI: 10.1016/j.ejmg.2013.06.003

Genes

CHM
NHS

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

A clinical molecular genetic service for United Kingdom families with choroideraemia.PMID 23811034Read ↗

Genetic analysis of choroideremia families in the Australian population.Semantic proximity Read ↗

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.Semantic proximity Read ↗

Choroideremia gene testingSemantic proximity Read ↗

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.Semantic proximity Read ↗

Understanding the impact of genetic testing for inherited retinal dystrophy.Semantic proximity Read ↗

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.Semantic proximity Read ↗

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.Semantic proximity Read ↗

Clinical findings in a carrier of a new mutation in the choroideremia gene.Semantic proximity Read ↗

Single-base substitutions in the CHM promoter as a cause of choroideremia.Semantic proximity Read ↗

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.Semantic proximity Read ↗

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