ArticleMolecular vision2018
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.Molecular genetics & genomic medicine · 2025Article
- Clinical features associated with maternal uniparental disomy for chromosome 6.Molecular cytogenetics · 2024Article
- Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.International journal of molecular sciences · 2023Article
- Homozygosity for a NovelInternational journal of molecular sciences · 2022Article
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient withInternational journal of molecular sciences · 2021Article
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Optimized nonionic emulsifier for the efficient delivery of astaxanthin nanodispersions to retina:Drug delivery · 2019Article
- Intranasal administration of erythropoietin rescues the photoreceptors in degenerative retina: a noninvasive method to deliver drugs to the eye.Drug delivery · 2019Article
- The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa. Methods: DNA from the proband was sequenced using a gene panel for inherited retinal disorders, and a single nucleotide polymorphism (SNP) array was conducted to detect the presence of deletions and uniparental disomy. Results: We identified a novel homozygous variant (c.524dupC, p.(Pro176ThrfsTer7)) in Conclusions: This is the first report of uniparental disomy 6 and a homozygous variant in
Indexed as
Identifiers
30090012PMC6066270W2900946675What OpenQuestion holds
Registered trials
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.