Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050504241> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2050504241 endingPage "59" @default.
- W2050504241 startingPage "51" @default.
- W2050504241 abstract "Many microdeletion and contiguous gene-deletion syndromes include mental retardation as a clinical feature. We have developed MultiFISH, a FISH assay using several probes to simultaneously screen for multiple microdeletion syndromes in patients who present with unexplained devleopmental delay and/or mental retardation. This screening tool can be used to determine whether a particular microdeletion syndrome is involved in the etiology of these clinical phenotypes. In this pilot study we combined probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridization. The probes were differentially labeled, allowing multicolor detection, and 200 individual samples were screened in a blinded fashion. For all patients found by MultiFISH to have deletions, the deletions were originally identified and/or later confirmed by use of single-probe FISH analysis in our diagnostic cytogenetics laboratory. One patient, who was referred for developmental delay and was shown to have a normal G-banded karyotype, was identified by MultiFISH as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region. Forty-six of the 200 total samples were tested for microdeletions by use of single FISH probes in the diagnostic laboratory. Ten of these cases were found to have deletions, and all deletions were subsequently detected by use of MultiFISH screen performed in a blinded fashion. Additionally, for all 200 patients tested by use of MultiFISH, no false-positive deletion results were observed. We demonstrate the ability of this technique to scan for and to identify microdeletions in a proportion of patients whose routine karyotype appears normal yet who are mentally retarded and/or developmentally delayed." @default.
- W2050504241 created "2016-06-24" @default.
- W2050504241 creator A5039022911 @default.
- W2050504241 creator A5070769975 @default.
- W2050504241 creator A5074963804 @default.
- W2050504241 date "1997-07-01" @default.
- W2050504241 modified "2023-09-29" @default.
- W2050504241 title "Simultaneous, Multilocus FISH Analysis for Detection of Microdeletions in the Diagnostic Evaluation of Developmental Delay and Mental Retardation" @default.
- W2050504241 cites W1237800473 @default.
- W2050504241 cites W1506836988 @default.
- W2050504241 cites W1536818957 @default.
- W2050504241 cites W1555322975 @default.
- W2050504241 cites W1787950949 @default.
- W2050504241 cites W1808692204 @default.
- W2050504241 cites W181881221 @default.
- W2050504241 cites W1932407338 @default.
- W2050504241 cites W1976859904 @default.
- W2050504241 cites W1977782433 @default.
- W2050504241 cites W1985106711 @default.
- W2050504241 cites W1992752077 @default.
- W2050504241 cites W1993056927 @default.
- W2050504241 cites W2002991365 @default.
- W2050504241 cites W2003651730 @default.
- W2050504241 cites W2015056399 @default.
- W2050504241 cites W2015222390 @default.
- W2050504241 cites W2072924157 @default.
- W2050504241 cites W2075206831 @default.
- W2050504241 cites W2090453008 @default.
- W2050504241 cites W2108707281 @default.
- W2050504241 cites W2111410367 @default.
- W2050504241 cites W2169513241 @default.
- W2050504241 cites W4249777515 @default.
- W2050504241 doi "https://doi.org/10.1086/513904" @default.
- W2050504241 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1715875" @default.
- W2050504241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9245984" @default.
- W2050504241 hasPublicationYear "1997" @default.
- W2050504241 type Work @default.
- W2050504241 sameAs 2050504241 @default.
- W2050504241 citedByCount "41" @default.
- W2050504241 countsByYear W20505042412012 @default.
- W2050504241 countsByYear W20505042412013 @default.
- W2050504241 countsByYear W20505042412015 @default.
- W2050504241 countsByYear W20505042412016 @default.
- W2050504241 countsByYear W20505042412017 @default.
- W2050504241 countsByYear W20505042412018 @default.
- W2050504241 crossrefType "journal-article" @default.
- W2050504241 hasAuthorship W2050504241A5039022911 @default.
- W2050504241 hasAuthorship W2050504241A5070769975 @default.
- W2050504241 hasAuthorship W2050504241A5074963804 @default.
- W2050504241 hasBestOaLocation W20505042411 @default.
- W2050504241 hasConcept C104317684 @default.
- W2050504241 hasConcept C2776984250 @default.
- W2050504241 hasConcept C2778691456 @default.
- W2050504241 hasConcept C2779688345 @default.
- W2050504241 hasConcept C2909208804 @default.
- W2050504241 hasConcept C30481170 @default.
- W2050504241 hasConcept C505870484 @default.
- W2050504241 hasConcept C53226629 @default.
- W2050504241 hasConcept C54355233 @default.
- W2050504241 hasConcept C551499885 @default.
- W2050504241 hasConcept C71924100 @default.
- W2050504241 hasConcept C86803240 @default.
- W2050504241 hasConceptScore W2050504241C104317684 @default.
- W2050504241 hasConceptScore W2050504241C2776984250 @default.
- W2050504241 hasConceptScore W2050504241C2778691456 @default.
- W2050504241 hasConceptScore W2050504241C2779688345 @default.
- W2050504241 hasConceptScore W2050504241C2909208804 @default.
- W2050504241 hasConceptScore W2050504241C30481170 @default.
- W2050504241 hasConceptScore W2050504241C505870484 @default.
- W2050504241 hasConceptScore W2050504241C53226629 @default.
- W2050504241 hasConceptScore W2050504241C54355233 @default.
- W2050504241 hasConceptScore W2050504241C551499885 @default.
- W2050504241 hasConceptScore W2050504241C71924100 @default.
- W2050504241 hasConceptScore W2050504241C86803240 @default.
- W2050504241 hasIssue "1" @default.
- W2050504241 hasLocation W20505042411 @default.
- W2050504241 hasLocation W20505042412 @default.
- W2050504241 hasLocation W20505042413 @default.
- W2050504241 hasLocation W20505042414 @default.
- W2050504241 hasOpenAccess W2050504241 @default.
- W2050504241 hasPrimaryLocation W20505042411 @default.
- W2050504241 hasRelatedWork W1863823222 @default.
- W2050504241 hasRelatedWork W1970446973 @default.
- W2050504241 hasRelatedWork W2031436818 @default.
- W2050504241 hasRelatedWork W2036835340 @default.
- W2050504241 hasRelatedWork W2053440157 @default.
- W2050504241 hasRelatedWork W2255952934 @default.
- W2050504241 hasRelatedWork W2281313131 @default.
- W2050504241 hasRelatedWork W2338957896 @default.
- W2050504241 hasRelatedWork W2558658196 @default.
- W2050504241 hasRelatedWork W2610525056 @default.
- W2050504241 hasVolume "61" @default.
- W2050504241 isParatext "false" @default.
- W2050504241 isRetracted "false" @default.
- W2050504241 magId "2050504241" @default.
- W2050504241 workType "article" @default.