Matches in SemOpenAlex for { <https://semopenalex.org/work/W2899403060> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2899403060 endingPage "103564" @default.
- W2899403060 startingPage "103564" @default.
- W2899403060 abstract "Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While most cases occur sporadically, parent-to-child transmission of ring 20 mosaicism has only been reported in a few exceptional families. We identified a further family with mother-to-child transmission of ring 20 mosaicism. Detailed characterization of the ring chromosome showed a complete ring with preserved telomere repetitive sequences. SNP genotyping excluded mosaic uniparental disomy and indicated that the chromosome was transmitted without recombination from mother to child. These results corroborate the findings of a previous study and support the hypothesis that inherited mosaicism is due to transmission of an unstable chromosome either prone to ring opening or to ring re-formation." @default.
- W2899403060 created "2018-11-09" @default.
- W2899403060 creator A5000905015 @default.
- W2899403060 creator A5032235096 @default.
- W2899403060 creator A5032503645 @default.
- W2899403060 creator A5047534680 @default.
- W2899403060 creator A5061825891 @default.
- W2899403060 creator A5062933205 @default.
- W2899403060 creator A5065252592 @default.
- W2899403060 creator A5067775422 @default.
- W2899403060 creator A5072357628 @default.
- W2899403060 creator A5081570084 @default.
- W2899403060 date "2019-11-01" @default.
- W2899403060 modified "2023-09-23" @default.
- W2899403060 title "A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature" @default.
- W2899403060 cites W1930087823 @default.
- W2899403060 cites W1972590950 @default.
- W2899403060 cites W1979559313 @default.
- W2899403060 cites W2024092699 @default.
- W2899403060 cites W2027538079 @default.
- W2899403060 cites W2029900727 @default.
- W2899403060 cites W2030929331 @default.
- W2899403060 cites W2058769357 @default.
- W2899403060 cites W2059316856 @default.
- W2899403060 cites W2077849596 @default.
- W2899403060 cites W2086587355 @default.
- W2899403060 cites W2089474646 @default.
- W2899403060 cites W2106827861 @default.
- W2899403060 cites W2107048639 @default.
- W2899403060 cites W2111433464 @default.
- W2899403060 cites W2118709451 @default.
- W2899403060 cites W2134962622 @default.
- W2899403060 cites W2157235187 @default.
- W2899403060 doi "https://doi.org/10.1016/j.ejmg.2018.10.016" @default.
- W2899403060 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30385235" @default.
- W2899403060 hasPublicationYear "2019" @default.
- W2899403060 type Work @default.
- W2899403060 sameAs 2899403060 @default.
- W2899403060 citedByCount "3" @default.
- W2899403060 countsByYear W28994030602020 @default.
- W2899403060 countsByYear W28994030602023 @default.
- W2899403060 crossrefType "journal-article" @default.
- W2899403060 hasAuthorship W2899403060A5000905015 @default.
- W2899403060 hasAuthorship W2899403060A5032235096 @default.
- W2899403060 hasAuthorship W2899403060A5032503645 @default.
- W2899403060 hasAuthorship W2899403060A5047534680 @default.
- W2899403060 hasAuthorship W2899403060A5061825891 @default.
- W2899403060 hasAuthorship W2899403060A5062933205 @default.
- W2899403060 hasAuthorship W2899403060A5065252592 @default.
- W2899403060 hasAuthorship W2899403060A5067775422 @default.
- W2899403060 hasAuthorship W2899403060A5072357628 @default.
- W2899403060 hasAuthorship W2899403060A5081570084 @default.
- W2899403060 hasConcept C104317684 @default.
- W2899403060 hasConcept C137555145 @default.
- W2899403060 hasConcept C178790620 @default.
- W2899403060 hasConcept C185592680 @default.
- W2899403060 hasConcept C2778691456 @default.
- W2899403060 hasConcept C2780332060 @default.
- W2899403060 hasConcept C2780378348 @default.
- W2899403060 hasConcept C2781034694 @default.
- W2899403060 hasConcept C30481170 @default.
- W2899403060 hasConcept C53226629 @default.
- W2899403060 hasConcept C54355233 @default.
- W2899403060 hasConcept C86803240 @default.
- W2899403060 hasConceptScore W2899403060C104317684 @default.
- W2899403060 hasConceptScore W2899403060C137555145 @default.
- W2899403060 hasConceptScore W2899403060C178790620 @default.
- W2899403060 hasConceptScore W2899403060C185592680 @default.
- W2899403060 hasConceptScore W2899403060C2778691456 @default.
- W2899403060 hasConceptScore W2899403060C2780332060 @default.
- W2899403060 hasConceptScore W2899403060C2780378348 @default.
- W2899403060 hasConceptScore W2899403060C2781034694 @default.
- W2899403060 hasConceptScore W2899403060C30481170 @default.
- W2899403060 hasConceptScore W2899403060C53226629 @default.
- W2899403060 hasConceptScore W2899403060C54355233 @default.
- W2899403060 hasConceptScore W2899403060C86803240 @default.
- W2899403060 hasIssue "11" @default.
- W2899403060 hasLocation W28994030601 @default.
- W2899403060 hasLocation W28994030602 @default.
- W2899403060 hasOpenAccess W2899403060 @default.
- W2899403060 hasPrimaryLocation W28994030601 @default.
- W2899403060 hasRelatedWork W1480269064 @default.
- W2899403060 hasRelatedWork W1754386388 @default.
- W2899403060 hasRelatedWork W1966333540 @default.
- W2899403060 hasRelatedWork W1966840791 @default.
- W2899403060 hasRelatedWork W1976280768 @default.
- W2899403060 hasRelatedWork W2014997199 @default.
- W2899403060 hasRelatedWork W2038524035 @default.
- W2899403060 hasRelatedWork W2073757377 @default.
- W2899403060 hasRelatedWork W2394904027 @default.
- W2899403060 hasRelatedWork W2899403060 @default.
- W2899403060 hasVolume "62" @default.
- W2899403060 isParatext "false" @default.
- W2899403060 isRetracted "false" @default.
- W2899403060 magId "2899403060" @default.
- W2899403060 workType "article" @default.