Matches in SemOpenAlex for { <https://semopenalex.org/work/W1984481433> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W1984481433 endingPage "558" @default.
- W1984481433 startingPage "552" @default.
- W1984481433 abstract "Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients. Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients." @default.
- W1984481433 created "2016-06-24" @default.
- W1984481433 creator A5009234583 @default.
- W1984481433 creator A5012036636 @default.
- W1984481433 creator A5020019979 @default.
- W1984481433 creator A5020374290 @default.
- W1984481433 creator A5044887457 @default.
- W1984481433 creator A5064982358 @default.
- W1984481433 date "1983-04-01" @default.
- W1984481433 modified "2023-10-17" @default.
- W1984481433 title "Miller-Dieker syndrome: Lissencephaly andmonosomy 17p" @default.
- W1984481433 cites W1506576262 @default.
- W1984481433 cites W1559222923 @default.
- W1984481433 cites W1963979670 @default.
- W1984481433 cites W1967346470 @default.
- W1984481433 cites W1973338406 @default.
- W1984481433 cites W1983431541 @default.
- W1984481433 cites W2003297134 @default.
- W1984481433 cites W2009307206 @default.
- W1984481433 cites W2021907925 @default.
- W1984481433 cites W2034824188 @default.
- W1984481433 cites W2039934377 @default.
- W1984481433 cites W2040808583 @default.
- W1984481433 cites W2070753496 @default.
- W1984481433 cites W2085161352 @default.
- W1984481433 cites W2111486924 @default.
- W1984481433 cites W2167739592 @default.
- W1984481433 cites W4232537260 @default.
- W1984481433 doi "https://doi.org/10.1016/s0022-3476(83)80183-8" @default.
- W1984481433 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/6834189" @default.
- W1984481433 hasPublicationYear "1983" @default.
- W1984481433 type Work @default.
- W1984481433 sameAs 1984481433 @default.
- W1984481433 citedByCount "164" @default.
- W1984481433 countsByYear W19844814332012 @default.
- W1984481433 countsByYear W19844814332013 @default.
- W1984481433 countsByYear W19844814332014 @default.
- W1984481433 countsByYear W19844814332015 @default.
- W1984481433 countsByYear W19844814332016 @default.
- W1984481433 countsByYear W19844814332017 @default.
- W1984481433 countsByYear W19844814332018 @default.
- W1984481433 countsByYear W19844814332019 @default.
- W1984481433 countsByYear W19844814332020 @default.
- W1984481433 countsByYear W19844814332021 @default.
- W1984481433 countsByYear W19844814332022 @default.
- W1984481433 crossrefType "journal-article" @default.
- W1984481433 hasAuthorship W1984481433A5009234583 @default.
- W1984481433 hasAuthorship W1984481433A5012036636 @default.
- W1984481433 hasAuthorship W1984481433A5020019979 @default.
- W1984481433 hasAuthorship W1984481433A5020374290 @default.
- W1984481433 hasAuthorship W1984481433A5044887457 @default.
- W1984481433 hasAuthorship W1984481433A5064982358 @default.
- W1984481433 hasConcept C104317684 @default.
- W1984481433 hasConcept C126322002 @default.
- W1984481433 hasConcept C2780698589 @default.
- W1984481433 hasConcept C54355233 @default.
- W1984481433 hasConcept C71924100 @default.
- W1984481433 hasConcept C86803240 @default.
- W1984481433 hasConceptScore W1984481433C104317684 @default.
- W1984481433 hasConceptScore W1984481433C126322002 @default.
- W1984481433 hasConceptScore W1984481433C2780698589 @default.
- W1984481433 hasConceptScore W1984481433C54355233 @default.
- W1984481433 hasConceptScore W1984481433C71924100 @default.
- W1984481433 hasConceptScore W1984481433C86803240 @default.
- W1984481433 hasIssue "4" @default.
- W1984481433 hasLocation W19844814331 @default.
- W1984481433 hasLocation W19844814332 @default.
- W1984481433 hasOpenAccess W1984481433 @default.
- W1984481433 hasPrimaryLocation W19844814331 @default.
- W1984481433 hasRelatedWork W1506200166 @default.
- W1984481433 hasRelatedWork W1995515455 @default.
- W1984481433 hasRelatedWork W2048182022 @default.
- W1984481433 hasRelatedWork W2080531066 @default.
- W1984481433 hasRelatedWork W2604872355 @default.
- W1984481433 hasRelatedWork W2748952813 @default.
- W1984481433 hasRelatedWork W2899084033 @default.
- W1984481433 hasRelatedWork W3031052312 @default.
- W1984481433 hasRelatedWork W3032375762 @default.
- W1984481433 hasRelatedWork W3108674512 @default.
- W1984481433 hasVolume "102" @default.
- W1984481433 isParatext "false" @default.
- W1984481433 isRetracted "false" @default.
- W1984481433 magId "1984481433" @default.
- W1984481433 workType "article" @default.