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

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.

JAMA ophthalmology - 1 Nov 2013

Lenis Tamara Lee, Dhrami-Gavazi Elona, Lee Winston, Mukkamala Sri Krishna, Tabacaru Mirela Raluca, Yannuzzi Lawrence, Gouras Peter, Tsang Stephen H

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 Electroretinography
Share to Fluorescein Angiography
Share to Ophthalmoscopy
Share to Potassium Channels, Voltage-Gated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Field Tests

Source

Open in PubMed Open full text

Identifiers

PMID: 24029832
DOI: 10.1001/jamaophthalmol.2013.4681
PMCID: PMC4377131

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.PMID 24029832Read ↗

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.Semantic proximity Read ↗

A retGC-1 Mutation in Autosomal Dominant Cone-Rod DystrophySemantic proximity Read ↗

Novel NR2E3 Mutations (R104Q, R334G) Associated with a Mild Form of Enhanced S-Cone Syndrome Demonstrate Compound HeterozygositySemantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.Semantic proximity Read ↗

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.Semantic proximity Read ↗

Causes and consequences of inherited cone disorders.Semantic proximity Read ↗

A new mutation in enhanced S-cone syndrome.Semantic proximity Read ↗

Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humansSemantic proximity Read ↗

NMNAT1 variants cause cone and cone-rod dystrophySemantic proximity Read ↗

The cone dysfunction syndromes.Semantic proximity Read ↗

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapySemantic proximity Read ↗

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