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

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Genes - 28 Jan 2020

Birtel Johannes, Gliem Martin, Hess Kristina, Birtel Theresa H, Holz Frank G, Zechner Ulrich, Bolz Hanno J, Herrmann Philipp

Abstract excerpt

Inherited retinal dystrophies (IRDs) are characterized by high clinical and genetic heterogeneity. A precise characterization is desirable for diagnosis and has impact on prognosis, patient counseling, and potential therapeutic options. Here, we demonstrate the effectiveness of the combination of in-depth retinal phenotyping and molecular genetic testing in complex pedigrees with different IRDs. Four affected...

Read the complete abstract on PubMed

Topics

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

Share to Albinism, Ocular
Share to Calcium Channels, L-Type

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cone-Rod Dystrophies

Share to Eye Diseases, Hereditary

Share to Fluorescein Angiography

Share to Microphthalmia-Associated Transcription Factor

Share to Myopia

Share to Night Blindness

Source

Open in PubMed Open full text

Identifiers

PMID: 32013026
DOI: 10.3390/genes11020137
PMCID: PMC7073860

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

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.PMID 32013026Read ↗

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.Semantic proximity Read ↗

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

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

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

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.Semantic proximity Read ↗

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.Semantic proximity Read ↗

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.Semantic proximity Read ↗

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesSemantic proximity Read ↗

Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutationsSemantic proximity Read ↗

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.Semantic proximity Read ↗

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.Semantic proximity Read ↗

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