ArticleMolecular genetics & genomic medicine2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Spontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report.BMC ophthalmology · 2026Article
- Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.Human genomics · 2025Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.Ophthalmology. Retina · 2024Article
- Genetic profile of syndromic retinitis pigmentosa in Portugal.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
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- Phenotypic characterization of retinitis pigmentosa associated with deafnessBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.Human genetics · 2022Review
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.Journal of human genetics · 2020Article
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
- Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Scientific reports · 2019Article
- Genetic Screening of the Usher Syndrome in Cuba.Frontiers in genetics · 2019Article
- The genetic dissection ofMolecular vision · 2018Article
- Usher syndrome: clinical features, molecular genetics and advancing therapeutics.Therapeutic advances in ophthalmologyReview
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUsher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.
methodsMutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.
resultsBefore Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of
conclusionMutations that lead to USH1 were predominantly identified in
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.