ArticleFrontiers in pharmacology2019
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Article in Frontiers in pharmacology, 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 15 papers, 2 of them syntheses that pooled it.
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.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients.Frontiers in endocrinology · 2026Article
- The Use of Bone Biomarkers, Imaging Tools, and Genetic Tests in the Diagnosis of Rare Bone Disorders.Calcified tissue international · 2025Review
- Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.Orphanet journal of rare diseases · 2024Article
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- Integrative analyses of genetic characteristics associated with skeletal endothelial cells.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2024Article
- Improving the accuracy and internal consistency of regression-based clustering of high-dimensional datasets.Statistical applications in genetics and molecular biology · 2023Article
- Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.Frontiers in endocrinology · 2023Article
- Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy.Healthcare (Basel, Switzerland) · 2022Article
- Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.Orphanet journal of rare diseases · 2022Article
- Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).Orphanet journal of rare diseases · 2022Article
- Current Insights into Collagen Type I.Polymers · 2021Review
- Case Report: A NovelFrontiers in genetics · 2021Article
- Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing loss, cardiovascular and pulmonary system abnormalities, triangular face, dentinogenesis imperfecta (DI), and walking with assistance. Currently, 20 causative genes with 18 subtypes have been identified for OI, of them, variations in
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