ArticleJournal of thoracic disease2018
Hungarian Marfan family with large
Article in Journal of thoracic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
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Who cites it
9 citing papers in PubMed.
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.BMC medical genomics · 2024Article
- Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.Molecular genetics & genomic medicine · 2023Review
- Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.Genetics research · 2022Article
- Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.Orphanet journal of rare diseases · 2021Review
- Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation.Frontiers in cardiovascular medicine · 2021Article
- The Molecular Genetics of Marfan Syndrome.International journal of medical sciences · 2021Review
- Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.Orphanet journal of rare diseases · 2020Article
- Increased visceral arterial tortuosity in Marfan syndrome.Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb
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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.