Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020509541> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2020509541 endingPage "103" @default.
- W2020509541 startingPage "95" @default.
- W2020509541 abstract "A complex de novo translocation was found in leukocytes and fibroblasts from a boy with mental retardation and minor abnormalities. The 45,XY chromosome constitution found in all cells was initially interpreted from routine G- and Q-banding techniques as a balanced translocation of part of the short arm of 12 to the short arm of 15 and of the long arm of 21 to the short arm of 12. With additional staining techniques and use of prometaphase chromosome preparations, it was determined that the distal portion of band 12.3 of the short arm of chromosome 12 was missing from the 12/15 and the 12/21 translocation chromosomes. This interpretation was confirmed by a decreased concentration of the LDH-B subunit in lactate dehydrogenase isozymes of the patient's fibroblasts, consistent with his being hemizygous for the LDHB locus." @default.
- W2020509541 created "2016-06-24" @default.
- W2020509541 creator A5011246609 @default.
- W2020509541 creator A5014874711 @default.
- W2020509541 creator A5024522693 @default.
- W2020509541 creator A5051981803 @default.
- W2020509541 creator A5071896879 @default.
- W2020509541 creator A5074292678 @default.
- W2020509541 creator A5074375882 @default.
- W2020509541 creator A5075581519 @default.
- W2020509541 creator A5077472895 @default.
- W2020509541 date "1981-01-01" @default.
- W2020509541 modified "2023-09-27" @default.
- W2020509541 title "Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB" @default.
- W2020509541 cites W1978778029 @default.
- W2020509541 cites W1999938299 @default.
- W2020509541 cites W2028043523 @default.
- W2020509541 cites W2028111700 @default.
- W2020509541 cites W2034737237 @default.
- W2020509541 cites W2034824188 @default.
- W2020509541 cites W2040946888 @default.
- W2020509541 cites W2066412428 @default.
- W2020509541 cites W2087217739 @default.
- W2020509541 doi "https://doi.org/10.1002/ajmg.1320090203" @default.
- W2020509541 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/6167167" @default.
- W2020509541 hasPublicationYear "1981" @default.
- W2020509541 type Work @default.
- W2020509541 sameAs 2020509541 @default.
- W2020509541 citedByCount "28" @default.
- W2020509541 countsByYear W20205095412012 @default.
- W2020509541 countsByYear W20205095412014 @default.
- W2020509541 countsByYear W20205095412016 @default.
- W2020509541 countsByYear W20205095412017 @default.
- W2020509541 countsByYear W20205095412018 @default.
- W2020509541 crossrefType "journal-article" @default.
- W2020509541 hasAuthorship W2020509541A5011246609 @default.
- W2020509541 hasAuthorship W2020509541A5014874711 @default.
- W2020509541 hasAuthorship W2020509541A5024522693 @default.
- W2020509541 hasAuthorship W2020509541A5051981803 @default.
- W2020509541 hasAuthorship W2020509541A5071896879 @default.
- W2020509541 hasAuthorship W2020509541A5074292678 @default.
- W2020509541 hasAuthorship W2020509541A5074375882 @default.
- W2020509541 hasAuthorship W2020509541A5075581519 @default.
- W2020509541 hasAuthorship W2020509541A5077472895 @default.
- W2020509541 hasConcept C104317684 @default.
- W2020509541 hasConcept C119795356 @default.
- W2020509541 hasConcept C138626823 @default.
- W2020509541 hasConcept C153911025 @default.
- W2020509541 hasConcept C181199279 @default.
- W2020509541 hasConcept C206936463 @default.
- W2020509541 hasConcept C3020253223 @default.
- W2020509541 hasConcept C30481170 @default.
- W2020509541 hasConcept C53226629 @default.
- W2020509541 hasConcept C54355233 @default.
- W2020509541 hasConcept C55493867 @default.
- W2020509541 hasConcept C74864618 @default.
- W2020509541 hasConcept C84597430 @default.
- W2020509541 hasConcept C86803240 @default.
- W2020509541 hasConceptScore W2020509541C104317684 @default.
- W2020509541 hasConceptScore W2020509541C119795356 @default.
- W2020509541 hasConceptScore W2020509541C138626823 @default.
- W2020509541 hasConceptScore W2020509541C153911025 @default.
- W2020509541 hasConceptScore W2020509541C181199279 @default.
- W2020509541 hasConceptScore W2020509541C206936463 @default.
- W2020509541 hasConceptScore W2020509541C3020253223 @default.
- W2020509541 hasConceptScore W2020509541C30481170 @default.
- W2020509541 hasConceptScore W2020509541C53226629 @default.
- W2020509541 hasConceptScore W2020509541C54355233 @default.
- W2020509541 hasConceptScore W2020509541C55493867 @default.
- W2020509541 hasConceptScore W2020509541C74864618 @default.
- W2020509541 hasConceptScore W2020509541C84597430 @default.
- W2020509541 hasConceptScore W2020509541C86803240 @default.
- W2020509541 hasIssue "2" @default.
- W2020509541 hasLocation W20205095411 @default.
- W2020509541 hasLocation W20205095412 @default.
- W2020509541 hasOpenAccess W2020509541 @default.
- W2020509541 hasPrimaryLocation W20205095411 @default.
- W2020509541 hasRelatedWork W1970062917 @default.
- W2020509541 hasRelatedWork W1980356048 @default.
- W2020509541 hasRelatedWork W2052294818 @default.
- W2020509541 hasRelatedWork W2053965973 @default.
- W2020509541 hasRelatedWork W2078397690 @default.
- W2020509541 hasRelatedWork W2085850942 @default.
- W2020509541 hasRelatedWork W2102603298 @default.
- W2020509541 hasRelatedWork W29518802 @default.
- W2020509541 hasRelatedWork W786552855 @default.
- W2020509541 hasRelatedWork W96536825 @default.
- W2020509541 hasVolume "9" @default.
- W2020509541 isParatext "false" @default.
- W2020509541 isRetracted "false" @default.
- W2020509541 magId "2020509541" @default.
- W2020509541 workType "article" @default.