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

GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants.

Mitochondrion - 1 Mar 2023

Martins Sara, Santos Maria João, Teixeira Márcia, Diogo Luísa, do Carmo Macário Maria, Marques João Pedro, Fonseca Pedro, Grazina Manuela

Abstract excerpt

Leber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95 %) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. A total of 101 samples were...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Optic Atrophy, Hereditary, Leber

Share to Real-Time Polymerase Chain Reaction

Source

Identifiers

PMID: 36716943
DOI: 10.1016/j.mito.2023.01.006

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

GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants.PMID 36716943Read ↗

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).Semantic proximity Read ↗

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

TaqMan-MGB probe quantitative PCR assays to genotype and quantify three mtDNA mutations of Leber hereditary optic neuropathy.Semantic proximity Read ↗

Applications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population.Semantic proximity Read ↗

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.Semantic proximity Read ↗

Rapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection.Semantic proximity Read ↗

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.Semantic proximity Read ↗

Computational Investigation on Cytochrome C Oxidase Subunit 3(Mt-co3) Responsible for Leber Hereditary Optic Neuropathy(Lhon)Semantic proximity Read ↗

MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR.Semantic proximity Read ↗

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.Semantic proximity Read ↗

A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

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