FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149169294> ?p ?o ?g. }

• W2149169294 endingPage "736" @default.
• W2149169294 startingPage "732" @default.
• W2149169294 abstract "Chromosomal deletion including 5q31 is rare and only a few patients have been reported to date. We report here on the first two patients with a submicroscopic deletion of 5q31.3 identified by microarray-based comparative genomic hybridization. The common clinical features of both patients were marked hypotonia, feeding difficulty in infancy, severe developmental delay, and epileptic/nonepileptic encephalopathy associated with delayed myelination. Both patients also shared characteristic facial features, including narrow forehead, low-set and abnormal auricles, bilateral ptosis, anteverted nares, long philtrum, tented upper vermilion, edematous cheeks, and high palate. The deleted region contains clustered PCDHs, including PCDHA and PCDHG, which are highly expressed in the brain where they function to guide neurons during brain development, neuronal differentiation, and synaptogenesis. The common deletion also contains neuregulin 2 (NRG2), a major gene for neurodevelopment. We suggest that 5q31.3 deletion is responsible for severe brain developmental delay and distinctive facial features, and that the common findings in these two patients representing a new microdeletion syndrome. We need further investigations to determine which genes are responsible for the patients' characteristic features. © 2011 Wiley-Liss, Inc." @default.
• W2149169294 created "2016-06-24" @default.
• W2149169294 creator A5004177660 @default.
• W2149169294 creator A5022760465 @default.
• W2149169294 creator A5061462589 @default.
• W2149169294 creator A5062372349 @default.
• W2149169294 creator A5074243718 @default.
• W2149169294 creator A5087779516 @default.
• W2149169294 creator A5088539764 @default.
• W2149169294 date "2011-03-15" @default.
• W2149169294 modified "2023-09-27" @default.
• W2149169294 title "A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination" @default.
• W2149169294 cites W1498541145 @default.
• W2149169294 cites W1974355024 @default.
• W2149169294 cites W1993157058 @default.
• W2149169294 cites W1995733485 @default.
• W2149169294 cites W2011394584 @default.
• W2149169294 cites W2011759437 @default.
• W2149169294 cites W2013737305 @default.
• W2149169294 cites W2024201682 @default.
• W2149169294 cites W2029831140 @default.
• W2149169294 cites W2030304082 @default.
• W2149169294 cites W2032698079 @default.
• W2149169294 cites W2035284156 @default.
• W2149169294 cites W2037892725 @default.
• W2149169294 cites W2060876619 @default.
• W2149169294 cites W2070715397 @default.
• W2149169294 cites W2083669410 @default.
• W2149169294 cites W2085993297 @default.
• W2149169294 cites W2089883236 @default.
• W2149169294 cites W2102844816 @default.
• W2149169294 cites W2110233724 @default.
• W2149169294 cites W2116630448 @default.
• W2149169294 cites W2125256896 @default.
• W2149169294 cites W2157583031 @default.
• W2149169294 cites W2169550012 @default.
• W2149169294 doi "https://doi.org/10.1002/ajmg.a.33891" @default.
• W2149169294 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21594995" @default.
• W2149169294 hasPublicationYear "2011" @default.
• W2149169294 type Work @default.
• W2149169294 sameAs 2149169294 @default.
• W2149169294 citedByCount "44" @default.
• W2149169294 countsByYear W21491692942012 @default.
• W2149169294 countsByYear W21491692942013 @default.
• W2149169294 countsByYear W21491692942014 @default.
• W2149169294 countsByYear W21491692942015 @default.
• W2149169294 countsByYear W21491692942016 @default.
• W2149169294 countsByYear W21491692942017 @default.
• W2149169294 countsByYear W21491692942018 @default.
• W2149169294 countsByYear W21491692942020 @default.
• W2149169294 countsByYear W21491692942021 @default.
• W2149169294 countsByYear W21491692942022 @default.
• W2149169294 countsByYear W21491692942023 @default.
• W2149169294 crossrefType "journal-article" @default.
• W2149169294 hasAuthorship W2149169294A5004177660 @default.
• W2149169294 hasAuthorship W2149169294A5022760465 @default.
• W2149169294 hasAuthorship W2149169294A5061462589 @default.
• W2149169294 hasAuthorship W2149169294A5062372349 @default.
• W2149169294 hasAuthorship W2149169294A5074243718 @default.
• W2149169294 hasAuthorship W2149169294A5087779516 @default.
• W2149169294 hasAuthorship W2149169294A5088539764 @default.
• W2149169294 hasConcept C104317684 @default.
• W2149169294 hasConcept C124942203 @default.
• W2149169294 hasConcept C127716648 @default.
• W2149169294 hasConcept C2776984250 @default.
• W2149169294 hasConcept C2779546488 @default.
• W2149169294 hasConcept C2779674439 @default.
• W2149169294 hasConcept C2781194658 @default.
• W2149169294 hasConcept C30481170 @default.
• W2149169294 hasConcept C54355233 @default.
• W2149169294 hasConcept C86803240 @default.
• W2149169294 hasConcept C98274493 @default.
• W2149169294 hasConceptScore W2149169294C104317684 @default.
• W2149169294 hasConceptScore W2149169294C124942203 @default.
• W2149169294 hasConceptScore W2149169294C127716648 @default.
• W2149169294 hasConceptScore W2149169294C2776984250 @default.
• W2149169294 hasConceptScore W2149169294C2779546488 @default.
• W2149169294 hasConceptScore W2149169294C2779674439 @default.
• W2149169294 hasConceptScore W2149169294C2781194658 @default.
• W2149169294 hasConceptScore W2149169294C30481170 @default.
• W2149169294 hasConceptScore W2149169294C54355233 @default.
• W2149169294 hasConceptScore W2149169294C86803240 @default.
• W2149169294 hasConceptScore W2149169294C98274493 @default.
• W2149169294 hasIssue "4" @default.
• W2149169294 hasLocation W21491692941 @default.
• W2149169294 hasLocation W21491692942 @default.
• W2149169294 hasOpenAccess W2149169294 @default.
• W2149169294 hasPrimaryLocation W21491692941 @default.
• W2149169294 hasRelatedWork W1967028376 @default.
• W2149169294 hasRelatedWork W2018952006 @default.
• W2149169294 hasRelatedWork W2076718716 @default.
• W2149169294 hasRelatedWork W2149169294 @default.
• W2149169294 hasRelatedWork W2279686126 @default.
• W2149169294 hasRelatedWork W2559743262 @default.
• W2149169294 hasRelatedWork W2906726476 @default.
• W2149169294 hasRelatedWork W2921835946 @default.
• W2149169294 hasRelatedWork W4284990028 @default.
• W2149169294 hasRelatedWork W4296995089 @default.

• next