FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4379093613> ?p ?o ?g. }

• W4379093613 endingPage "466" @default.
• W4379093613 startingPage "462" @default.
• W4379093613 abstract "Abstract Background Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder. Case Presentation We present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21‐year‐old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying. She was hospitalized in a psychiatric hospital several times. Patient 2 is a 19‐year‐old male with ASD and ADHD. He did not have developmental delay, but had social difficulties and impulsiveness, then refused to go to school because of bullying. He was treated by a psychiatrist for anxiety and disrupted sleep rhythms. Array comparative genomic hybridization was performed for the siblings and parents. 15q13.3 deletions were detected in the siblings and their healthy mothers. No other pathogenic CNVs were detected. We performed whole‐genome sequencing of the family and identified 13 rare missense variants in brain‐expressed genes, which may be responsible for the phenotypic differences between the siblings and their mother. Conclusions This study shows incomplete penetrance and variable expressivity in 15q13.3 deletions. We detected second‐hit variants that may explain the phenotypic differences within this family. In addition, detecting 15q13.3 deletions may lead to early diagnosis and a better prognosis with careful follow‐up." @default.
• W4379093613 created "2023-06-03" @default.
• W4379093613 creator A5026728831 @default.
• W4379093613 creator A5055063676 @default.
• W4379093613 creator A5074008074 @default.
• W4379093613 creator A5085403072 @default.
• W4379093613 date "2023-06-01" @default.
• W4379093613 modified "2023-10-17" @default.
• W4379093613 title "Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions" @default.
• W4379093613 cites W1546528060 @default.
• W4379093613 cites W1973950074 @default.
• W4379093613 cites W1993890839 @default.
• W4379093613 cites W1997031801 @default.
• W4379093613 cites W2008627757 @default.
• W4379093613 cites W2054476466 @default.
• W4379093613 cites W2059145105 @default.
• W4379093613 cites W2098000677 @default.
• W4379093613 cites W2130407782 @default.
• W4379093613 cites W2170090311 @default.
• W4379093613 cites W2890839967 @default.
• W4379093613 cites W2981730965 @default.
• W4379093613 cites W3087082589 @default.
• W4379093613 cites W3210362739 @default.
• W4379093613 cites W4200250238 @default.
• W4379093613 cites W4220897953 @default.
• W4379093613 cites W4224051801 @default.
• W4379093613 cites W4224217409 @default.
• W4379093613 cites W4281553529 @default.
• W4379093613 cites W4293068820 @default.
• W4379093613 cites W4379093613 @default.
• W4379093613 doi "https://doi.org/10.1002/npr2.12340" @default.
• W4379093613 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37264739" @default.
• W4379093613 hasPublicationYear "2023" @default.
• W4379093613 type Work @default.
• W4379093613 citedByCount "1" @default.
• W4379093613 countsByYear W43790936132023 @default.
• W4379093613 crossrefType "journal-article" @default.
• W4379093613 hasAuthorship W4379093613A5026728831 @default.
• W4379093613 hasAuthorship W4379093613A5055063676 @default.
• W4379093613 hasAuthorship W4379093613A5074008074 @default.
• W4379093613 hasAuthorship W4379093613A5085403072 @default.
• W4379093613 hasBestOaLocation W43790936131 @default.
• W4379093613 hasConcept C104317684 @default.
• W4379093613 hasConcept C118552586 @default.
• W4379093613 hasConcept C120821319 @default.
• W4379093613 hasConcept C127716648 @default.
• W4379093613 hasConcept C141231307 @default.
• W4379093613 hasConcept C15744967 @default.
• W4379093613 hasConcept C169900460 @default.
• W4379093613 hasConcept C187869287 @default.
• W4379093613 hasConcept C200544954 @default.
• W4379093613 hasConcept C205778803 @default.
• W4379093613 hasConcept C2776174506 @default.
• W4379093613 hasConcept C2777545354 @default.
• W4379093613 hasConcept C2778538070 @default.
• W4379093613 hasConcept C2779388368 @default.
• W4379093613 hasConcept C2780733359 @default.
• W4379093613 hasConcept C54355233 @default.
• W4379093613 hasConcept C551499885 @default.
• W4379093613 hasConcept C558461103 @default.
• W4379093613 hasConcept C71924100 @default.
• W4379093613 hasConcept C86803240 @default.
• W4379093613 hasConceptScore W4379093613C104317684 @default.
• W4379093613 hasConceptScore W4379093613C118552586 @default.
• W4379093613 hasConceptScore W4379093613C120821319 @default.
• W4379093613 hasConceptScore W4379093613C127716648 @default.
• W4379093613 hasConceptScore W4379093613C141231307 @default.
• W4379093613 hasConceptScore W4379093613C15744967 @default.
• W4379093613 hasConceptScore W4379093613C169900460 @default.
• W4379093613 hasConceptScore W4379093613C187869287 @default.
• W4379093613 hasConceptScore W4379093613C200544954 @default.
• W4379093613 hasConceptScore W4379093613C205778803 @default.
• W4379093613 hasConceptScore W4379093613C2776174506 @default.
• W4379093613 hasConceptScore W4379093613C2777545354 @default.
• W4379093613 hasConceptScore W4379093613C2778538070 @default.
• W4379093613 hasConceptScore W4379093613C2779388368 @default.
• W4379093613 hasConceptScore W4379093613C2780733359 @default.
• W4379093613 hasConceptScore W4379093613C54355233 @default.
• W4379093613 hasConceptScore W4379093613C551499885 @default.
• W4379093613 hasConceptScore W4379093613C558461103 @default.
• W4379093613 hasConceptScore W4379093613C71924100 @default.
• W4379093613 hasConceptScore W4379093613C86803240 @default.
• W4379093613 hasFunder F4320311405 @default.
• W4379093613 hasFunder F4320325287 @default.
• W4379093613 hasFunder F4320334764 @default.
• W4379093613 hasIssue "3" @default.
• W4379093613 hasLocation W43790936131 @default.
• W4379093613 hasLocation W43790936132 @default.
• W4379093613 hasOpenAccess W4379093613 @default.
• W4379093613 hasPrimaryLocation W43790936131 @default.
• W4379093613 hasRelatedWork W1923721795 @default.
• W4379093613 hasRelatedWork W1976905805 @default.
• W4379093613 hasRelatedWork W2087373760 @default.
• W4379093613 hasRelatedWork W2150428478 @default.
• W4379093613 hasRelatedWork W2163081943 @default.
• W4379093613 hasRelatedWork W2272305265 @default.
• W4379093613 hasRelatedWork W2294076509 @default.
• W4379093613 hasRelatedWork W2803007046 @default.

• next