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

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.

Ophthalmic genetics - 1 Oct 2019

Salmaninejad Arash, Motaee Jamshid, Farjami Mahsa, Alimardani Maliheh, Esmaeilie Alireza, Pasdar Alireza

Abstract excerpt

Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. It is characterized by the initial degeneration of rod photoreceptors followed by cone photoreceptors. RP is also a prominent reason of visual impairment, by a global prevalence of 1:4000. RP is usually specified with nyctalopia in puberty, followed by concentric visual ﬁeld loss, that reﬂects the main...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 31755340
DOI: 10.1080/13816810.2019.1675178

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

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.PMID 31755340Read ↗

Next-Generation Sequencing in the Clinical Diagnosis of Retinitis Pigmentosa.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Semantic proximity Read ↗

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

Genes and mutations causing retinitis pigmentosa.Semantic proximity Read ↗

Next-generation genetic testing for retinitis pigmentosa.Semantic proximity Read ↗

[Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing].Semantic proximity Read ↗

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Semantic proximity Read ↗

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.Semantic proximity Read ↗

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.Semantic proximity Read ↗

Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective.Semantic proximity Read ↗

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