Matches in SemOpenAlex for { <https://semopenalex.org/work/W2118362404> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2118362404 endingPage "14" @default.
- W2118362404 startingPage "14" @default.
- W2118362404 abstract "Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region." @default.
- W2118362404 created "2016-06-24" @default.
- W2118362404 creator A5032297413 @default.
- W2118362404 creator A5037148536 @default.
- W2118362404 creator A5060705315 @default.
- W2118362404 creator A5068783315 @default.
- W2118362404 creator A5069770795 @default.
- W2118362404 creator A5077913721 @default.
- W2118362404 creator A5079701332 @default.
- W2118362404 creator A5086005802 @default.
- W2118362404 creator A5089202675 @default.
- W2118362404 date "2009-01-01" @default.
- W2118362404 modified "2023-10-15" @default.
- W2118362404 title "Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report" @default.
- W2118362404 cites W1570715867 @default.
- W2118362404 cites W1981114668 @default.
- W2118362404 cites W1998059747 @default.
- W2118362404 cites W2011200594 @default.
- W2118362404 cites W2014280719 @default.
- W2118362404 cites W2026187433 @default.
- W2118362404 cites W2052367112 @default.
- W2118362404 cites W2053436483 @default.
- W2118362404 cites W2086092810 @default.
- W2118362404 cites W2090648535 @default.
- W2118362404 cites W2102571630 @default.
- W2118362404 cites W2106148567 @default.
- W2118362404 cites W2123497822 @default.
- W2118362404 cites W2160451910 @default.
- W2118362404 doi "https://doi.org/10.1186/1755-8166-2-14" @default.
- W2118362404 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2715415" @default.
- W2118362404 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19566937" @default.
- W2118362404 hasPublicationYear "2009" @default.
- W2118362404 type Work @default.
- W2118362404 sameAs 2118362404 @default.
- W2118362404 citedByCount "7" @default.
- W2118362404 countsByYear W21183624042014 @default.
- W2118362404 countsByYear W21183624042016 @default.
- W2118362404 countsByYear W21183624042020 @default.
- W2118362404 countsByYear W21183624042021 @default.
- W2118362404 countsByYear W21183624042022 @default.
- W2118362404 crossrefType "journal-article" @default.
- W2118362404 hasAuthorship W2118362404A5032297413 @default.
- W2118362404 hasAuthorship W2118362404A5037148536 @default.
- W2118362404 hasAuthorship W2118362404A5060705315 @default.
- W2118362404 hasAuthorship W2118362404A5068783315 @default.
- W2118362404 hasAuthorship W2118362404A5069770795 @default.
- W2118362404 hasAuthorship W2118362404A5077913721 @default.
- W2118362404 hasAuthorship W2118362404A5079701332 @default.
- W2118362404 hasAuthorship W2118362404A5086005802 @default.
- W2118362404 hasAuthorship W2118362404A5089202675 @default.
- W2118362404 hasBestOaLocation W21183624041 @default.
- W2118362404 hasConcept C104317684 @default.
- W2118362404 hasConcept C15151550 @default.
- W2118362404 hasConcept C165984737 @default.
- W2118362404 hasConcept C174475383 @default.
- W2118362404 hasConcept C23069440 @default.
- W2118362404 hasConcept C2777542201 @default.
- W2118362404 hasConcept C30481170 @default.
- W2118362404 hasConcept C53226629 @default.
- W2118362404 hasConcept C54355233 @default.
- W2118362404 hasConcept C7602840 @default.
- W2118362404 hasConcept C86803240 @default.
- W2118362404 hasConceptScore W2118362404C104317684 @default.
- W2118362404 hasConceptScore W2118362404C15151550 @default.
- W2118362404 hasConceptScore W2118362404C165984737 @default.
- W2118362404 hasConceptScore W2118362404C174475383 @default.
- W2118362404 hasConceptScore W2118362404C23069440 @default.
- W2118362404 hasConceptScore W2118362404C2777542201 @default.
- W2118362404 hasConceptScore W2118362404C30481170 @default.
- W2118362404 hasConceptScore W2118362404C53226629 @default.
- W2118362404 hasConceptScore W2118362404C54355233 @default.
- W2118362404 hasConceptScore W2118362404C7602840 @default.
- W2118362404 hasConceptScore W2118362404C86803240 @default.
- W2118362404 hasIssue "1" @default.
- W2118362404 hasLocation W21183624041 @default.
- W2118362404 hasLocation W21183624042 @default.
- W2118362404 hasLocation W21183624043 @default.
- W2118362404 hasLocation W21183624044 @default.
- W2118362404 hasOpenAccess W2118362404 @default.
- W2118362404 hasPrimaryLocation W21183624041 @default.
- W2118362404 hasRelatedWork W1966343933 @default.
- W2118362404 hasRelatedWork W1970446973 @default.
- W2118362404 hasRelatedWork W2001251148 @default.
- W2118362404 hasRelatedWork W2015107348 @default.
- W2118362404 hasRelatedWork W2020372875 @default.
- W2118362404 hasRelatedWork W2041760558 @default.
- W2118362404 hasRelatedWork W2079203029 @default.
- W2118362404 hasRelatedWork W2104319020 @default.
- W2118362404 hasRelatedWork W2359784799 @default.
- W2118362404 hasRelatedWork W44751152 @default.
- W2118362404 hasVolume "2" @default.
- W2118362404 isParatext "false" @default.
- W2118362404 isRetracted "false" @default.
- W2118362404 magId "2118362404" @default.
- W2118362404 workType "article" @default.