Matches in SemOpenAlex for { <https://semopenalex.org/work/W2053049393> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2053049393 endingPage "174" @default.
- W2053049393 startingPage "171" @default.
- W2053049393 abstract "To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the <i>MECP2</i> gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the <i>UBE3A</i>locus. <i>MECP2</i> missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that<i>MECP2</i> mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the <i>MECP2</i> gene in severe encephalopathy in both males and females." @default.
- W2053049393 created "2016-06-24" @default.
- W2053049393 creator A5049420159 @default.
- W2053049393 date "2001-03-01" @default.
- W2053049393 modified "2023-10-16" @default.
- W2053049393 title "MECP2 mutation in non-fatal, non-progressive encephalopathy in a male" @default.
- W2053049393 cites W1559742681 @default.
- W2053049393 cites W1784857457 @default.
- W2053049393 cites W1988249803 @default.
- W2053049393 cites W2014640199 @default.
- W2053049393 cites W2021878605 @default.
- W2053049393 cites W2032474463 @default.
- W2053049393 cites W2040914733 @default.
- W2053049393 cites W2061239440 @default.
- W2053049393 cites W2074027775 @default.
- W2053049393 cites W2110920216 @default.
- W2053049393 cites W2169493038 @default.
- W2053049393 doi "https://doi.org/10.1136/jmg.38.3.171" @default.
- W2053049393 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1734835" @default.
- W2053049393 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11238684" @default.
- W2053049393 hasPublicationYear "2001" @default.
- W2053049393 type Work @default.
- W2053049393 sameAs 2053049393 @default.
- W2053049393 citedByCount "90" @default.
- W2053049393 countsByYear W20530493932012 @default.
- W2053049393 countsByYear W20530493932015 @default.
- W2053049393 countsByYear W20530493932016 @default.
- W2053049393 countsByYear W20530493932017 @default.
- W2053049393 countsByYear W20530493932018 @default.
- W2053049393 countsByYear W20530493932019 @default.
- W2053049393 countsByYear W20530493932020 @default.
- W2053049393 countsByYear W20530493932021 @default.
- W2053049393 countsByYear W20530493932023 @default.
- W2053049393 crossrefType "journal-article" @default.
- W2053049393 hasAuthorship W2053049393A5049420159 @default.
- W2053049393 hasBestOaLocation W20530493931 @default.
- W2053049393 hasConcept C104317684 @default.
- W2053049393 hasConcept C126322002 @default.
- W2053049393 hasConcept C127716648 @default.
- W2053049393 hasConcept C187212893 @default.
- W2053049393 hasConcept C2777543196 @default.
- W2053049393 hasConcept C2778621155 @default.
- W2053049393 hasConcept C2778863441 @default.
- W2053049393 hasConcept C29906990 @default.
- W2053049393 hasConcept C501734568 @default.
- W2053049393 hasConcept C54355233 @default.
- W2053049393 hasConcept C62923972 @default.
- W2053049393 hasConcept C71924100 @default.
- W2053049393 hasConcept C75563809 @default.
- W2053049393 hasConcept C86803240 @default.
- W2053049393 hasConceptScore W2053049393C104317684 @default.
- W2053049393 hasConceptScore W2053049393C126322002 @default.
- W2053049393 hasConceptScore W2053049393C127716648 @default.
- W2053049393 hasConceptScore W2053049393C187212893 @default.
- W2053049393 hasConceptScore W2053049393C2777543196 @default.
- W2053049393 hasConceptScore W2053049393C2778621155 @default.
- W2053049393 hasConceptScore W2053049393C2778863441 @default.
- W2053049393 hasConceptScore W2053049393C29906990 @default.
- W2053049393 hasConceptScore W2053049393C501734568 @default.
- W2053049393 hasConceptScore W2053049393C54355233 @default.
- W2053049393 hasConceptScore W2053049393C62923972 @default.
- W2053049393 hasConceptScore W2053049393C71924100 @default.
- W2053049393 hasConceptScore W2053049393C75563809 @default.
- W2053049393 hasConceptScore W2053049393C86803240 @default.
- W2053049393 hasIssue "3" @default.
- W2053049393 hasLocation W20530493931 @default.
- W2053049393 hasLocation W20530493932 @default.
- W2053049393 hasLocation W20530493933 @default.
- W2053049393 hasLocation W20530493934 @default.
- W2053049393 hasOpenAccess W2053049393 @default.
- W2053049393 hasPrimaryLocation W20530493931 @default.
- W2053049393 hasRelatedWork W1540914548 @default.
- W2053049393 hasRelatedWork W1966987963 @default.
- W2053049393 hasRelatedWork W1975701585 @default.
- W2053049393 hasRelatedWork W1979707152 @default.
- W2053049393 hasRelatedWork W2011240015 @default.
- W2053049393 hasRelatedWork W2039074626 @default.
- W2053049393 hasRelatedWork W2044745130 @default.
- W2053049393 hasRelatedWork W2073458029 @default.
- W2053049393 hasRelatedWork W2074072041 @default.
- W2053049393 hasRelatedWork W2088391943 @default.
- W2053049393 hasVolume "38" @default.
- W2053049393 isParatext "false" @default.
- W2053049393 isRetracted "false" @default.
- W2053049393 magId "2053049393" @default.
- W2053049393 workType "article" @default.