ArticleBalkan journal of medical genetics : BJMG2012
Ring autosomes: some unexpected findings.
Article in Balkan journal of medical genetics : BJMG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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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
10 citing papers in PubMed, 18 citations in OpenAlex.
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.Journal of personalized medicine · 2024Article
- Case Report. Diagnostic Challenges: Liver Metastases from Mammary Gland Origin or Cholangiocarcinoma?International journal of women's health · 2023Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn's disease.Molecular biology reports · 2022Article
- A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.Molecular syndromology · 2020Article
- Article
- Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.Case reports in genetics · 2019Article
- Loss ofMolecular cytogenetics · 2018Article
- Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18.F1000Research · 2017Article
- Ring chromosome 18: a case report.International journal of molecular and cellular medicine · 2014Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring's instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.
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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.