ArticleJournal of medical genetics2021
Clinical spectrum and genetic variations of
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Pooled it
- An Unbiased Drug Screen in a Drosophila Model ofInternational journal of molecular sciences · 2026Article
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- Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygousJournal of the Endocrine Society · 2026Article
- CRISPR-mediated targeting of theMolecular therapy. Advances · 2026Article
- Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.Human mutation · 2026Article
- Article
- DNA methylation associations with cognitive function in early-stage hormone receptor-positive breast cancer patients.Epigenomics · 2025Article
- Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.The Indian journal of radiology & imaging · 2025Article
- Article
- Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.International journal of molecular sciences · 2024Article
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
- Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.Journal of neuromuscular diseases · 2024Article
- Miyoshi Muscular Dystrophy Type 1 with MutatedGenes · 2023Review
- Article
- Characterization of cardiac involvement in children withFrontiers in cell and developmental biology · 2023Article
- Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.BMC pediatrics · 2022Article
- Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.Orphanet journal of rare diseases · 2021Article
- International retrospective natural history study ofBrain communications · 2021Article
- Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 7 institutions in 3 countries.
Funding
Abstract
background
methodsThe clinical presentations of patients with
resultsEighty-four patients were identified to harbour
conclusionsOur detailed clinical and genetic analysis of 84 patients with
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.