ArticleMolecular genetics & genomic medicine2017
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Postzygotic mosaicism in cerebral cavernous malformation.Journal of medical genetics · 2020Article
- Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.Molecular syndromology · 2018Review
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the
methodsWe here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations.
resultsIn one case, allelic ratios clearly indicated mosaicism for a
conclusionOur data demonstrate that de novo mutations in
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