Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

doi:10.1002/mgg3.1044

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

Community

Back to search

Article

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Molecular genetics & genomic medicine - 1 Jan 2020

Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar F

Abstract excerpt

BACKGROUND: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next-generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization of RD cohorts from different ethnic groups is justified, as it would improve the knowledge of molecular basis of...

Read the complete abstract on PubMed

Topics

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

Share to ADP-Ribosylation Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Extracellular Matrix Proteins

Share to Eye Proteins

Share to Genetic Heterogeneity

Share to Isocitrate Dehydrogenase

Share to Mexico

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 31736247
DOI: 10.1002/mgg3.1044
PMCID: PMC6978239

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.PMID 31736247Read ↗

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.Semantic proximity Read ↗

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Semantic proximity Read ↗

Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and CounselingSemantic proximity Read ↗

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Semantic proximity Read ↗

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

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.Semantic proximity Read ↗

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.Semantic proximity Read ↗

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Semantic proximity Read ↗

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Semantic proximity Read ↗

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Semantic proximity Read ↗

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Semantic proximity Read ↗

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.Semantic proximity Read ↗

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