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

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

Ophthalmology - 1 Feb 2005

Galvin Jennifer A, Fishman Gerald A, Stone Edwin M, Koenekoop Robert K

Abstract excerpt

OBJECTIVE: To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital amaurosis (LCA). DESIGN: Observational prospective comparative study. PARTICIPANTS: Thirty carriers with various probable disease-causing sequence variations in 1 of 6 genes known to cause LCA. METHODS: After the establishment of various...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to Chromatography, High Pressure Liquid
Share to cis-trans-Isomerases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dark Adaptation

Share to Electroretinography

Share to Eye Proteins

Share to Guanylate Cyclase

Share to Retinal Degeneration

Source

Identifiers

PMID: 15691574
DOI: 10.1016/j.ophtha.2004.08.023

Genes

AIPL1
ERG
RPGRIP1
CRB1
RPE65
CRX

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

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.PMID 15691574Read ↗

Evaluation of genotype-phenotype associations in leber congenital amaurosis.Semantic proximity Read ↗

Leber congenital amaurosis: a genetic paradigm.Semantic proximity Read ↗

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.Semantic proximity Read ↗

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.Semantic proximity Read ↗

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.Semantic proximity Read ↗

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.Semantic proximity Read ↗

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Semantic proximity Read ↗

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.Semantic proximity Read ↗

Molecular genetics of Leber congenital amaurosis.Semantic proximity Read ↗

Mutational analysis and clinical correlation in Leber congenital amaurosis.Semantic proximity Read ↗

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.Semantic proximity Read ↗

[From gene to disease; Leber congenital amaurosis (LCA)].Semantic proximity Read ↗

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