ReviewInternational journal of cardiology2011
13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.
Review in International journal of cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed, 10 citations in OpenAlex.
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.Frontiers in genetics · 2020Article
- The importance of copy number variation in congenital heart disease.NPJ genomic medicine · 2016Article
- A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.Molecular cytogenetics · 2016Article
- Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.PLoS genetics · 2012Article
- Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.American heart journal · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromosome 13. History of developmental delay and learning difficulties, mild dysmorphic facial features, and anal atresia prompted genetic investigations. A review of the literature on deletions that overlap this region showed that several were associated with major congenital heart defects. The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development.
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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.