FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020490906> ?p ?o ?g. }

• W2020490906 endingPage "116" @default.
• W2020490906 startingPage "111" @default.
• W2020490906 abstract "Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present with a psychopathologic impairment that is highly variable in severity but always classifiable as pervasive developmental disorder (PDD). Many genetic mechanisms have been hypothesized to explain the clinical variability. This article describes the neurologic and psychopathologic features of six Inv dup(15) patients, one male and five females, between 8 and 14 years of age, all with a maternal marker chromosome. Four patients were diagnosed with PDD not otherwise specified, whereas two patients received a diagnosis of autism. Epilepsy was present in three patients (two generalized symptomatic and one focal symptomatic), and a correlation between the severity of the disease and its outcome was not always observed. Nevertheless, the influence of gene content of the marker chromosome, particularly the three gamma-aminobutyric acid-A receptor subunit genes, may represent the link between epilepsy, mental retardation, and PDD." @default.
• W2020490906 created "2016-06-24" @default.
• W2020490906 creator A5005587302 @default.
• W2020490906 creator A5042852273 @default.
• W2020490906 creator A5045582993 @default.
• W2020490906 creator A5053457172 @default.
• W2020490906 creator A5068056823 @default.
• W2020490906 creator A5086719936 @default.
• W2020490906 creator A5088238685 @default.
• W2020490906 creator A5090833276 @default.
• W2020490906 date "2001-02-01" @default.
• W2020490906 modified "2023-09-24" @default.
• W2020490906 title "Relationship between clinical and genetic features in “inverted duplicated chromosome 15” patients" @default.
• W2020490906 cites W1592962813 @default.
• W2020490906 cites W1965560866 @default.
• W2020490906 cites W2012138773 @default.
• W2020490906 cites W2016104458 @default.
• W2020490906 cites W2019433658 @default.
• W2020490906 cites W2025470742 @default.
• W2020490906 cites W2052146581 @default.
• W2020490906 cites W2064056989 @default.
• W2020490906 cites W2077359423 @default.
• W2020490906 cites W2078800384 @default.
• W2020490906 cites W2084023673 @default.
• W2020490906 cites W2085395145 @default.
• W2020490906 cites W2088354892 @default.
• W2020490906 cites W2105605440 @default.
• W2020490906 cites W2107601960 @default.
• W2020490906 cites W2115645850 @default.
• W2020490906 cites W2115659437 @default.
• W2020490906 cites W2133919933 @default.
• W2020490906 cites W2140671613 @default.
• W2020490906 cites W2142779794 @default.
• W2020490906 cites W2159457615 @default.
• W2020490906 cites W2337632157 @default.
• W2020490906 cites W2413436953 @default.
• W2020490906 cites W4239594659 @default.
• W2020490906 doi "https://doi.org/10.1016/s0887-8994(00)00244-7" @default.
• W2020490906 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11275459" @default.
• W2020490906 hasPublicationYear "2001" @default.
• W2020490906 type Work @default.
• W2020490906 sameAs 2020490906 @default.
• W2020490906 citedByCount "68" @default.
• W2020490906 countsByYear W20204909062012 @default.
• W2020490906 countsByYear W20204909062013 @default.
• W2020490906 countsByYear W20204909062014 @default.
• W2020490906 countsByYear W20204909062015 @default.
• W2020490906 countsByYear W20204909062016 @default.
• W2020490906 countsByYear W20204909062017 @default.
• W2020490906 countsByYear W20204909062019 @default.
• W2020490906 countsByYear W20204909062020 @default.
• W2020490906 countsByYear W20204909062021 @default.
• W2020490906 countsByYear W20204909062022 @default.
• W2020490906 countsByYear W20204909062023 @default.
• W2020490906 crossrefType "journal-article" @default.
• W2020490906 hasAuthorship W2020490906A5005587302 @default.
• W2020490906 hasAuthorship W2020490906A5042852273 @default.
• W2020490906 hasAuthorship W2020490906A5045582993 @default.
• W2020490906 hasAuthorship W2020490906A5053457172 @default.
• W2020490906 hasAuthorship W2020490906A5068056823 @default.
• W2020490906 hasAuthorship W2020490906A5086719936 @default.
• W2020490906 hasAuthorship W2020490906A5088238685 @default.
• W2020490906 hasAuthorship W2020490906A5090833276 @default.
• W2020490906 hasConcept C104317684 @default.
• W2020490906 hasConcept C118552586 @default.
• W2020490906 hasConcept C15744967 @default.
• W2020490906 hasConcept C187212893 @default.
• W2020490906 hasConcept C205778803 @default.
• W2020490906 hasConcept C2778186239 @default.
• W2020490906 hasConcept C2778594975 @default.
• W2020490906 hasConcept C2779546488 @default.
• W2020490906 hasConcept C2780906641 @default.
• W2020490906 hasConcept C30481170 @default.
• W2020490906 hasConcept C48737797 @default.
• W2020490906 hasConcept C54355233 @default.
• W2020490906 hasConcept C71924100 @default.
• W2020490906 hasConcept C7602840 @default.
• W2020490906 hasConcept C86803240 @default.
• W2020490906 hasConceptScore W2020490906C104317684 @default.
• W2020490906 hasConceptScore W2020490906C118552586 @default.
• W2020490906 hasConceptScore W2020490906C15744967 @default.
• W2020490906 hasConceptScore W2020490906C187212893 @default.
• W2020490906 hasConceptScore W2020490906C205778803 @default.
• W2020490906 hasConceptScore W2020490906C2778186239 @default.
• W2020490906 hasConceptScore W2020490906C2778594975 @default.
• W2020490906 hasConceptScore W2020490906C2779546488 @default.
• W2020490906 hasConceptScore W2020490906C2780906641 @default.
• W2020490906 hasConceptScore W2020490906C30481170 @default.
• W2020490906 hasConceptScore W2020490906C48737797 @default.
• W2020490906 hasConceptScore W2020490906C54355233 @default.
• W2020490906 hasConceptScore W2020490906C71924100 @default.
• W2020490906 hasConceptScore W2020490906C7602840 @default.
• W2020490906 hasConceptScore W2020490906C86803240 @default.
• W2020490906 hasIssue "2" @default.
• W2020490906 hasLocation W20204909061 @default.
• W2020490906 hasLocation W20204909062 @default.
• W2020490906 hasOpenAccess W2020490906 @default.
• W2020490906 hasPrimaryLocation W20204909061 @default.

• next