Matches in SemOpenAlex for { <https://semopenalex.org/work/W2254484352> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2254484352 endingPage "673" @default.
- W2254484352 startingPage "669" @default.
- W2254484352 abstract "Temple syndrome (TS, MIM 616222) is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. TS is a genetically complex disorder, which is associated with maternal uniparental disomy of chromosome 14 (UPD14), paternal deletions on chromosome 14, or loss of methylation at the intergenic differentially methylated region (IG-DMR). Here, we describe the case of a patient with maternal hetero-UPD14, mixed iso-/hetero-disomy mechanism identified by a single nucleotide polymorphism (SNP) array analysis of patient-father duos study. The phenotype of our case is similarities to Prader-Willi syndrome (PWS) during infancy and to Russell-Silver syndrome (RSS) during childhood. This SNP array appears to be an effective initial screening tool for patients with nonspecific clinical features suggestive of chromosomal disorders." @default.
- W2254484352 created "2016-06-24" @default.
- W2254484352 creator A5005832907 @default.
- W2254484352 creator A5055461839 @default.
- W2254484352 creator A5078636121 @default.
- W2254484352 date "2016-08-01" @default.
- W2254484352 modified "2023-10-09" @default.
- W2254484352 title "Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos" @default.
- W2254484352 cites W1980260080 @default.
- W2254484352 cites W2007263599 @default.
- W2254484352 cites W2028462657 @default.
- W2254484352 cites W2058964935 @default.
- W2254484352 cites W2094889529 @default.
- W2254484352 cites W2098923511 @default.
- W2254484352 cites W2135284044 @default.
- W2254484352 cites W2139300562 @default.
- W2254484352 cites W2147582180 @default.
- W2254484352 cites W2226771054 @default.
- W2254484352 doi "https://doi.org/10.1016/j.braindev.2016.01.008" @default.
- W2254484352 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26867509" @default.
- W2254484352 hasPublicationYear "2016" @default.
- W2254484352 type Work @default.
- W2254484352 sameAs 2254484352 @default.
- W2254484352 citedByCount "5" @default.
- W2254484352 countsByYear W22544843522016 @default.
- W2254484352 countsByYear W22544843522017 @default.
- W2254484352 countsByYear W22544843522020 @default.
- W2254484352 countsByYear W22544843522021 @default.
- W2254484352 crossrefType "journal-article" @default.
- W2254484352 hasAuthorship W2254484352A5005832907 @default.
- W2254484352 hasAuthorship W2254484352A5055461839 @default.
- W2254484352 hasAuthorship W2254484352A5078636121 @default.
- W2254484352 hasConcept C104317684 @default.
- W2254484352 hasConcept C122060243 @default.
- W2254484352 hasConcept C127716648 @default.
- W2254484352 hasConcept C135763542 @default.
- W2254484352 hasConcept C139275648 @default.
- W2254484352 hasConcept C150194340 @default.
- W2254484352 hasConcept C153209595 @default.
- W2254484352 hasConcept C186836561 @default.
- W2254484352 hasConcept C190727270 @default.
- W2254484352 hasConcept C201492766 @default.
- W2254484352 hasConcept C2780332060 @default.
- W2254484352 hasConcept C30481170 @default.
- W2254484352 hasConcept C53226629 @default.
- W2254484352 hasConcept C54355233 @default.
- W2254484352 hasConcept C86803240 @default.
- W2254484352 hasConcept C94715292 @default.
- W2254484352 hasConceptScore W2254484352C104317684 @default.
- W2254484352 hasConceptScore W2254484352C122060243 @default.
- W2254484352 hasConceptScore W2254484352C127716648 @default.
- W2254484352 hasConceptScore W2254484352C135763542 @default.
- W2254484352 hasConceptScore W2254484352C139275648 @default.
- W2254484352 hasConceptScore W2254484352C150194340 @default.
- W2254484352 hasConceptScore W2254484352C153209595 @default.
- W2254484352 hasConceptScore W2254484352C186836561 @default.
- W2254484352 hasConceptScore W2254484352C190727270 @default.
- W2254484352 hasConceptScore W2254484352C201492766 @default.
- W2254484352 hasConceptScore W2254484352C2780332060 @default.
- W2254484352 hasConceptScore W2254484352C30481170 @default.
- W2254484352 hasConceptScore W2254484352C53226629 @default.
- W2254484352 hasConceptScore W2254484352C54355233 @default.
- W2254484352 hasConceptScore W2254484352C86803240 @default.
- W2254484352 hasConceptScore W2254484352C94715292 @default.
- W2254484352 hasIssue "7" @default.
- W2254484352 hasLocation W22544843521 @default.
- W2254484352 hasLocation W22544843522 @default.
- W2254484352 hasOpenAccess W2254484352 @default.
- W2254484352 hasPrimaryLocation W22544843521 @default.
- W2254484352 hasRelatedWork W1970202965 @default.
- W2254484352 hasRelatedWork W2019727430 @default.
- W2254484352 hasRelatedWork W2038434389 @default.
- W2254484352 hasRelatedWork W2038524035 @default.
- W2254484352 hasRelatedWork W2254484352 @default.
- W2254484352 hasRelatedWork W2739145092 @default.
- W2254484352 hasRelatedWork W2889405966 @default.
- W2254484352 hasRelatedWork W3009374669 @default.
- W2254484352 hasRelatedWork W3098552288 @default.
- W2254484352 hasRelatedWork W4319736548 @default.
- W2254484352 hasVolume "38" @default.
- W2254484352 isParatext "false" @default.
- W2254484352 isRetracted "false" @default.
- W2254484352 magId "2254484352" @default.
- W2254484352 workType "article" @default.