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-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Feb 2023

Zenteno Juan C, Arce-Gonzalez Rocio, Matsui Rodrigo, Lopez-Bolaños Antonio, Montes Luis, Martinez-Aguilar Alan, Chacon-Camacho Oscar F

Abstract excerpt

PURPOSE: To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations. METHODS: A total of eight unrelated Mexican subjects with a clinical and multimodal imaging diagnosis of macular dystrophy were included. Visual assessment methods included best corrected...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Bestrophins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P450 Family 2

Share to Electroretinography

Share to Macular Degeneration

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Share to Visual Field Tests

Source

Identifiers

PMID: 35947183
DOI: 10.1007/s00417-022-05786-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.PMID 35947183Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.Semantic proximity Read ↗

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care CenterSemantic proximity Read ↗

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Semantic proximity Read ↗

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.Semantic proximity Read ↗

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

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

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

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Semantic proximity Read ↗

State of the Art on Inherited Retinal Dystrophies: Management and Molecular GeneticsSemantic proximity Read ↗

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

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