FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2110911352> ?p ?o ?g. }

• W2110911352 endingPage "443" @default.
• W2110911352 startingPage "434" @default.
• W2110911352 abstract "Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances. Subsequently, we ascertained seven further families where the proband presented with similar features. We demonstrated duplications of the Xq28 region in five of these additional families. In addition to MECP2, these duplications encompassed several other genes already known to be associated with diseases including SLC6A8, L1CAM and Filamin A (FLNA). The two remaining families were shown to have intragenic duplications of FLNA only. We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families." @default.
• W2110911352 created "2016-06-24" @default.
• W2110911352 creator A5004994495 @default.
• W2110911352 creator A5018455815 @default.
• W2110911352 creator A5025179479 @default.
• W2110911352 creator A5028823382 @default.
• W2110911352 creator A5029343002 @default.
• W2110911352 creator A5037476890 @default.
• W2110911352 creator A5044272112 @default.
• W2110911352 creator A5055319001 @default.
• W2110911352 creator A5055650452 @default.
• W2110911352 creator A5056395975 @default.
• W2110911352 creator A5056744774 @default.
• W2110911352 creator A5060903010 @default.
• W2110911352 creator A5068355065 @default.
• W2110911352 creator A5076541018 @default.
• W2110911352 date "2008-10-15" @default.
• W2110911352 modified "2023-10-18" @default.
• W2110911352 title "Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance" @default.
• W2110911352 cites W1964159332 @default.
• W2110911352 cites W1969270394 @default.
• W2110911352 cites W1978611620 @default.
• W2110911352 cites W1989270565 @default.
• W2110911352 cites W2011264089 @default.
• W2110911352 cites W2011493536 @default.
• W2110911352 cites W2018186529 @default.
• W2110911352 cites W2023986198 @default.
• W2110911352 cites W2025945768 @default.
• W2110911352 cites W2042022070 @default.
• W2110911352 cites W2048490262 @default.
• W2110911352 cites W2059324975 @default.
• W2110911352 cites W2062093753 @default.
• W2110911352 cites W2065410176 @default.
• W2110911352 cites W2067778429 @default.
• W2110911352 cites W2068892991 @default.
• W2110911352 cites W2105815383 @default.
• W2110911352 cites W2106409531 @default.
• W2110911352 cites W2113926943 @default.
• W2110911352 cites W2115301408 @default.
• W2110911352 cites W2126838022 @default.
• W2110911352 cites W2129267672 @default.
• W2110911352 cites W2131098677 @default.
• W2110911352 cites W2140671537 @default.
• W2110911352 doi "https://doi.org/10.1038/ejhg.2008.192" @default.
• W2110911352 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2986219" @default.
• W2110911352 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18854860" @default.
• W2110911352 hasPublicationYear "2008" @default.
• W2110911352 type Work @default.
• W2110911352 sameAs 2110911352 @default.
• W2110911352 citedByCount "85" @default.
• W2110911352 countsByYear W21109113522012 @default.
• W2110911352 countsByYear W21109113522013 @default.
• W2110911352 countsByYear W21109113522014 @default.
• W2110911352 countsByYear W21109113522015 @default.
• W2110911352 countsByYear W21109113522016 @default.
• W2110911352 countsByYear W21109113522017 @default.
• W2110911352 countsByYear W21109113522018 @default.
• W2110911352 countsByYear W21109113522019 @default.
• W2110911352 countsByYear W21109113522020 @default.
• W2110911352 countsByYear W21109113522021 @default.
• W2110911352 countsByYear W21109113522022 @default.
• W2110911352 countsByYear W21109113522023 @default.
• W2110911352 crossrefType "journal-article" @default.
• W2110911352 hasAuthorship W2110911352A5004994495 @default.
• W2110911352 hasAuthorship W2110911352A5018455815 @default.
• W2110911352 hasAuthorship W2110911352A5025179479 @default.
• W2110911352 hasAuthorship W2110911352A5028823382 @default.
• W2110911352 hasAuthorship W2110911352A5029343002 @default.
• W2110911352 hasAuthorship W2110911352A5037476890 @default.
• W2110911352 hasAuthorship W2110911352A5044272112 @default.
• W2110911352 hasAuthorship W2110911352A5055319001 @default.
• W2110911352 hasAuthorship W2110911352A5055650452 @default.
• W2110911352 hasAuthorship W2110911352A5056395975 @default.
• W2110911352 hasAuthorship W2110911352A5056744774 @default.
• W2110911352 hasAuthorship W2110911352A5060903010 @default.
• W2110911352 hasAuthorship W2110911352A5068355065 @default.
• W2110911352 hasAuthorship W2110911352A5076541018 @default.
• W2110911352 hasBestOaLocation W21109113521 @default.
• W2110911352 hasConcept C104317684 @default.
• W2110911352 hasConcept C105922876 @default.
• W2110911352 hasConcept C127716648 @default.
• W2110911352 hasConcept C141071460 @default.
• W2110911352 hasConcept C142669718 @default.
• W2110911352 hasConcept C1491633281 @default.
• W2110911352 hasConcept C20563397 @default.
• W2110911352 hasConcept C2776066342 @default.
• W2110911352 hasConcept C2777082864 @default.
• W2110911352 hasConcept C2778863441 @default.
• W2110911352 hasConcept C2779684405 @default.
• W2110911352 hasConcept C2781047483 @default.
• W2110911352 hasConcept C35158069 @default.
• W2110911352 hasConcept C54355233 @default.
• W2110911352 hasConcept C71924100 @default.
• W2110911352 hasConcept C7602840 @default.
• W2110911352 hasConcept C86803240 @default.
• W2110911352 hasConceptScore W2110911352C104317684 @default.
• W2110911352 hasConceptScore W2110911352C105922876 @default.
• W2110911352 hasConceptScore W2110911352C127716648 @default.

• next