ArticleHuman genome variation2019
Clinical and genetic characteristics of 14 patients from 13 Japanese families with
Article in Human genome variation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 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
14 citing papers in PubMed, 19 citations in OpenAlex.
- Tapetal-like reflex in RPGR-associated retinal dystrophies: two cases with distinct phenotypes.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Review
- The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.Stem cell research & therapy · 2023Review
- RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.Investigative ophthalmology & visual science · 2023Article
- Impaired glutamylation of RPGRProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy.American journal of ophthalmology · 2022Observational
- PCB126 Exposure Revealed Alterations in m6A RNA Modifications in Transcripts Associated With AHR Activation.Toxicological sciences : an official journal of the Society of Toxicology · 2021Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Investigative ophthalmology & visual science · 2020Article
- Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.Investigative ophthalmology & visual science · 2020Article
- Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.International journal of ophthalmology · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring
Indexed as
Identifiers
What 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.