FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2115957572> ?p ?o ?g. }

• W2115957572 endingPage "926" @default.
• W2115957572 startingPage "916" @default.
• W2115957572 abstract "We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 of whom had no obvious phenotypic abnormality (control group) and 46 of whom had an associated disease (case group). The aim of this study was to identify breakpoint characteristics that could discriminate between these groups and which might be of predictive value in de novo ABCR (DN-ABCR) cases detected antenatally. We found no difference in the proportion of breakpoints that interrupted a gene, although in three cases, direct interruption or deletion of known autosomal-dominant or X-linked recessive Mendelian disease genes was diagnostic. The only significant predictor of phenotypic abnormality in the group as a whole was the localization of one or both breakpoints to an R-positive (G-negative) band with estimated predictive values of 0.69 (95% CL 0.54-0.81) and 0.90 (95% CL 0.60-0.98), respectively. R-positive bands are known to contain more genes and have a higher guanine-cytosine (GC) content than do G-positive (R-negative) bands; however, whether a gene was interrupted by the breakpoint or the GC content in the 200 kB around the breakpoint had no discriminant ability. Our results suggest that the large-scale genomic context of the breakpoint has prognostic utility and that the pathological mechanism of mapping to an R-band cannot be accounted for by direct gene inactivation." @default.
• W2115957572 created "2016-06-24" @default.
• W2115957572 creator A5001462033 @default.
• W2115957572 creator A5005965111 @default.
• W2115957572 creator A5006530641 @default.
• W2115957572 creator A5009247691 @default.
• W2115957572 creator A5013206705 @default.
• W2115957572 creator A5015345647 @default.
• W2115957572 creator A5024169122 @default.
• W2115957572 creator A5025192393 @default.
• W2115957572 creator A5036673405 @default.
• W2115957572 creator A5043630297 @default.
• W2115957572 creator A5047935490 @default.
• W2115957572 creator A5055650452 @default.
• W2115957572 creator A5056744774 @default.
• W2115957572 creator A5076541018 @default.
• W2115957572 creator A5076676191 @default.
• W2115957572 creator A5084824217 @default.
• W2115957572 creator A5088142998 @default.
• W2115957572 date "2008-04-01" @default.
• W2115957572 modified "2023-10-18" @default.
• W2115957572 title "FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality" @default.
• W2115957572 cites W110126004 @default.
• W2115957572 cites W1495912443 @default.
• W2115957572 cites W1529788780 @default.
• W2115957572 cites W1967310821 @default.
• W2115957572 cites W1968472660 @default.
• W2115957572 cites W1970980262 @default.
• W2115957572 cites W1993651887 @default.
• W2115957572 cites W2015143278 @default.
• W2115957572 cites W2015538286 @default.
• W2115957572 cites W2035380874 @default.
• W2115957572 cites W2036921369 @default.
• W2115957572 cites W2037630508 @default.
• W2115957572 cites W2045510682 @default.
• W2115957572 cites W2046677910 @default.
• W2115957572 cites W2055649861 @default.
• W2115957572 cites W2064018179 @default.
• W2115957572 cites W2066729833 @default.
• W2115957572 cites W2077283688 @default.
• W2115957572 cites W2081706923 @default.
• W2115957572 cites W2085710246 @default.
• W2115957572 cites W2089125385 @default.
• W2115957572 cites W2089310116 @default.
• W2115957572 cites W2091605994 @default.
• W2115957572 cites W2092901837 @default.
• W2115957572 cites W2115099562 @default.
• W2115957572 cites W2147271987 @default.
• W2115957572 cites W2151109134 @default.
• W2115957572 cites W2330073784 @default.
• W2115957572 cites W2403777044 @default.
• W2115957572 cites W2411237886 @default.
• W2115957572 cites W301912682 @default.
• W2115957572 doi "https://doi.org/10.1016/j.ajhg.2008.02.007" @default.
• W2115957572 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2491339" @default.
• W2115957572 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18374296" @default.
• W2115957572 hasPublicationYear "2008" @default.
• W2115957572 type Work @default.
• W2115957572 sameAs 2115957572 @default.
• W2115957572 citedByCount "44" @default.
• W2115957572 countsByYear W21159575722012 @default.
• W2115957572 countsByYear W21159575722013 @default.
• W2115957572 countsByYear W21159575722014 @default.
• W2115957572 countsByYear W21159575722015 @default.
• W2115957572 countsByYear W21159575722016 @default.
• W2115957572 countsByYear W21159575722018 @default.
• W2115957572 countsByYear W21159575722019 @default.
• W2115957572 countsByYear W21159575722020 @default.
• W2115957572 countsByYear W21159575722021 @default.
• W2115957572 countsByYear W21159575722022 @default.
• W2115957572 crossrefType "journal-article" @default.
• W2115957572 hasAuthorship W2115957572A5001462033 @default.
• W2115957572 hasAuthorship W2115957572A5005965111 @default.
• W2115957572 hasAuthorship W2115957572A5006530641 @default.
• W2115957572 hasAuthorship W2115957572A5009247691 @default.
• W2115957572 hasAuthorship W2115957572A5013206705 @default.
• W2115957572 hasAuthorship W2115957572A5015345647 @default.
• W2115957572 hasAuthorship W2115957572A5024169122 @default.
• W2115957572 hasAuthorship W2115957572A5025192393 @default.
• W2115957572 hasAuthorship W2115957572A5036673405 @default.
• W2115957572 hasAuthorship W2115957572A5043630297 @default.
• W2115957572 hasAuthorship W2115957572A5047935490 @default.
• W2115957572 hasAuthorship W2115957572A5055650452 @default.
• W2115957572 hasAuthorship W2115957572A5056744774 @default.
• W2115957572 hasAuthorship W2115957572A5076541018 @default.
• W2115957572 hasAuthorship W2115957572A5076676191 @default.
• W2115957572 hasAuthorship W2115957572A5084824217 @default.
• W2115957572 hasAuthorship W2115957572A5088142998 @default.
• W2115957572 hasBestOaLocation W21159575721 @default.
• W2115957572 hasConcept C104317684 @default.
• W2115957572 hasConcept C127716648 @default.
• W2115957572 hasConcept C151730666 @default.
• W2115957572 hasConcept C15744967 @default.
• W2115957572 hasConcept C206936463 @default.
• W2115957572 hasConcept C2779343474 @default.
• W2115957572 hasConcept C30481170 @default.
• W2115957572 hasConcept C50965678 @default.
• W2115957572 hasConcept C53226629 @default.

• next