Matches in SemOpenAlex for { <https://semopenalex.org/work/W1480269064> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W1480269064 endingPage "60" @default.
- W1480269064 startingPage "459" @default.
- W1480269064 abstract "Genetic imprinting has been implicated in the etiology of two clinically distinct but cytogenetically indistinguishable disorders--Angelman syndrome (AS) and Prader-Willi syndrome (PWS). This hypothesis is derived from two lines of evidence. First, while the molecular extents of de novo cytogenetic deletions of chromosome 15q11q13 in AS and PWS patients are the same, the deletions originate from different parental chromosomes. In AS, the deletion occurs in the maternally inherited chromosome 15, while in PWS the deletion is found in the paternally inherited chromosome 15. The second line of evidence comes from the deletion of an abnormal parental contribution of 15q11q13 in PWS patients without a cytogenetic and molecular deletion. These patients have two maternal copies and no paternal copy of 15q11q13 (maternal uniparental disomy) instead of one copy from each parent. By qualitative hybridization with chromosome 15q11q13 specific DNA markers, we have now examined DNA samples from 10 AS patients (at least seven of which are familial cases) with no cytogenetic or molecular deletion of chromosome 15q11q13. Inheritance of one maternal copy and one paternal copy of 15q11q13 was observed in each family, suggesting that paternal uniparental disomy of 15q11q13 is not responsible for expression of the AS phenotype in these patients." @default.
- W1480269064 created "2016-06-24" @default.
- W1480269064 creator A5026572099 @default.
- W1480269064 creator A5039938638 @default.
- W1480269064 creator A5058303676 @default.
- W1480269064 creator A5058420452 @default.
- W1480269064 creator A5059947110 @default.
- W1480269064 date "1991-08-01" @default.
- W1480269064 modified "2023-09-23" @default.
- W1480269064 title "Chromosome 15 uniparental disomy is not frequent in Angelman syndrome." @default.
- W1480269064 cites W129379213 @default.
- W1480269064 cites W1480269064 @default.
- W1480269064 cites W1538298016 @default.
- W1480269064 cites W1565038541 @default.
- W1480269064 cites W167992241 @default.
- W1480269064 cites W1964619416 @default.
- W1480269064 cites W1988967645 @default.
- W1480269064 cites W1992324957 @default.
- W1480269064 cites W1995205005 @default.
- W1480269064 cites W1998460240 @default.
- W1480269064 cites W2007214149 @default.
- W1480269064 cites W2014669590 @default.
- W1480269064 cites W2029299113 @default.
- W1480269064 cites W2043882061 @default.
- W1480269064 cites W2049991715 @default.
- W1480269064 cites W2057589729 @default.
- W1480269064 cites W2062956770 @default.
- W1480269064 cites W2064618550 @default.
- W1480269064 cites W2066328877 @default.
- W1480269064 cites W2075064702 @default.
- W1480269064 cites W2082607914 @default.
- W1480269064 cites W2113728534 @default.
- W1480269064 cites W2116723833 @default.
- W1480269064 cites W2131018415 @default.
- W1480269064 cites W2165487190 @default.
- W1480269064 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1683277" @default.
- W1480269064 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1985457" @default.
- W1480269064 hasPublicationYear "1991" @default.
- W1480269064 type Work @default.
- W1480269064 sameAs 1480269064 @default.
- W1480269064 citedByCount "35" @default.
- W1480269064 countsByYear W14802690642012 @default.
- W1480269064 countsByYear W14802690642019 @default.
- W1480269064 crossrefType "posted-content" @default.
- W1480269064 hasAuthorship W1480269064A5026572099 @default.
- W1480269064 hasAuthorship W1480269064A5039938638 @default.
- W1480269064 hasAuthorship W1480269064A5058303676 @default.
- W1480269064 hasAuthorship W1480269064A5058420452 @default.
- W1480269064 hasAuthorship W1480269064A5059947110 @default.
- W1480269064 hasConcept C104317684 @default.
- W1480269064 hasConcept C120821319 @default.
- W1480269064 hasConcept C141231307 @default.
- W1480269064 hasConcept C150194340 @default.
- W1480269064 hasConcept C165237769 @default.
- W1480269064 hasConcept C190727270 @default.
- W1480269064 hasConcept C201492766 @default.
- W1480269064 hasConcept C2778691456 @default.
- W1480269064 hasConcept C2780332060 @default.
- W1480269064 hasConcept C30481170 @default.
- W1480269064 hasConcept C53226629 @default.
- W1480269064 hasConcept C54355233 @default.
- W1480269064 hasConcept C86803240 @default.
- W1480269064 hasConcept C94715292 @default.
- W1480269064 hasConceptScore W1480269064C104317684 @default.
- W1480269064 hasConceptScore W1480269064C120821319 @default.
- W1480269064 hasConceptScore W1480269064C141231307 @default.
- W1480269064 hasConceptScore W1480269064C150194340 @default.
- W1480269064 hasConceptScore W1480269064C165237769 @default.
- W1480269064 hasConceptScore W1480269064C190727270 @default.
- W1480269064 hasConceptScore W1480269064C201492766 @default.
- W1480269064 hasConceptScore W1480269064C2778691456 @default.
- W1480269064 hasConceptScore W1480269064C2780332060 @default.
- W1480269064 hasConceptScore W1480269064C30481170 @default.
- W1480269064 hasConceptScore W1480269064C53226629 @default.
- W1480269064 hasConceptScore W1480269064C54355233 @default.
- W1480269064 hasConceptScore W1480269064C86803240 @default.
- W1480269064 hasConceptScore W1480269064C94715292 @default.
- W1480269064 hasIssue "2" @default.
- W1480269064 hasLocation W14802690641 @default.
- W1480269064 hasOpenAccess W1480269064 @default.
- W1480269064 hasPrimaryLocation W14802690641 @default.
- W1480269064 hasRelatedWork W1480269064 @default.
- W1480269064 hasRelatedWork W1494956959 @default.
- W1480269064 hasRelatedWork W1966840791 @default.
- W1480269064 hasRelatedWork W1993669390 @default.
- W1480269064 hasRelatedWork W2014901857 @default.
- W1480269064 hasRelatedWork W2038524035 @default.
- W1480269064 hasRelatedWork W2062934156 @default.
- W1480269064 hasRelatedWork W2073757377 @default.
- W1480269064 hasRelatedWork W2146781373 @default.
- W1480269064 hasRelatedWork W2154032366 @default.
- W1480269064 hasVolume "49" @default.
- W1480269064 isParatext "false" @default.
- W1480269064 isRetracted "false" @default.
- W1480269064 magId "1480269064" @default.
- W1480269064 workType "article" @default.