Matches in SemOpenAlex for { <https://semopenalex.org/work/W1983130849> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W1983130849 endingPage "167" @default.
- W1983130849 startingPage "163" @default.
- W1983130849 abstract "A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The karyotype was 46,X,t(Y;16)(q11.2;q24) in 100 cells. Chromosome painting with the heterochromatic Y chromosome-specific long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZ1, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat which showed chromosomal separation of the 2 stained regions. To further localize the breakpoint, FISH was performed using individual YACs from a Y-YAC contig (Foote et al., 1992). This disclosed two YACs (yOX111 and yOX123) which hybridized to both the Y and der16 chromosomes. The YACS spanning the translocation breakpoint region were located just proximal to the Y heterochromatin boundary. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region (Ma et al., 1993) suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary (as there are near the pseudoautosomal boundary) which may include a gene involved with lymphedema which is disrupted by the translocation in this patient." @default.
- W1983130849 created "2016-06-24" @default.
- W1983130849 creator A5001329501 @default.
- W1983130849 creator A5002683233 @default.
- W1983130849 creator A5004919410 @default.
- W1983130849 creator A5018612523 @default.
- W1983130849 creator A5068040510 @default.
- W1983130849 creator A5068493886 @default.
- W1983130849 date "1995-01-01" @default.
- W1983130849 modified "2023-10-15" @default.
- W1983130849 title "A “balanced” Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome" @default.
- W1983130849 doi "https://doi.org/10.1159/000134099" @default.
- W1983130849 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7656589" @default.
- W1983130849 hasPublicationYear "1995" @default.
- W1983130849 type Work @default.
- W1983130849 sameAs 1983130849 @default.
- W1983130849 citedByCount "18" @default.
- W1983130849 countsByYear W19831308492012 @default.
- W1983130849 countsByYear W19831308492020 @default.
- W1983130849 crossrefType "journal-article" @default.
- W1983130849 hasAuthorship W1983130849A5001329501 @default.
- W1983130849 hasAuthorship W1983130849A5002683233 @default.
- W1983130849 hasAuthorship W1983130849A5004919410 @default.
- W1983130849 hasAuthorship W1983130849A5018612523 @default.
- W1983130849 hasAuthorship W1983130849A5068040510 @default.
- W1983130849 hasAuthorship W1983130849A5068493886 @default.
- W1983130849 hasConcept C103435993 @default.
- W1983130849 hasConcept C104317684 @default.
- W1983130849 hasConcept C122735190 @default.
- W1983130849 hasConcept C138626823 @default.
- W1983130849 hasConcept C141231307 @default.
- W1983130849 hasConcept C153911025 @default.
- W1983130849 hasConcept C169836425 @default.
- W1983130849 hasConcept C206936463 @default.
- W1983130849 hasConcept C2780246931 @default.
- W1983130849 hasConcept C30481170 @default.
- W1983130849 hasConcept C35158069 @default.
- W1983130849 hasConcept C53226629 @default.
- W1983130849 hasConcept C54355233 @default.
- W1983130849 hasConcept C59582021 @default.
- W1983130849 hasConcept C86803240 @default.
- W1983130849 hasConceptScore W1983130849C103435993 @default.
- W1983130849 hasConceptScore W1983130849C104317684 @default.
- W1983130849 hasConceptScore W1983130849C122735190 @default.
- W1983130849 hasConceptScore W1983130849C138626823 @default.
- W1983130849 hasConceptScore W1983130849C141231307 @default.
- W1983130849 hasConceptScore W1983130849C153911025 @default.
- W1983130849 hasConceptScore W1983130849C169836425 @default.
- W1983130849 hasConceptScore W1983130849C206936463 @default.
- W1983130849 hasConceptScore W1983130849C2780246931 @default.
- W1983130849 hasConceptScore W1983130849C30481170 @default.
- W1983130849 hasConceptScore W1983130849C35158069 @default.
- W1983130849 hasConceptScore W1983130849C53226629 @default.
- W1983130849 hasConceptScore W1983130849C54355233 @default.
- W1983130849 hasConceptScore W1983130849C59582021 @default.
- W1983130849 hasConceptScore W1983130849C86803240 @default.
- W1983130849 hasIssue "2" @default.
- W1983130849 hasLocation W19831308491 @default.
- W1983130849 hasLocation W19831308492 @default.
- W1983130849 hasOpenAccess W1983130849 @default.
- W1983130849 hasPrimaryLocation W19831308491 @default.
- W1983130849 hasRelatedWork W1968557064 @default.
- W1983130849 hasRelatedWork W2002758933 @default.
- W1983130849 hasRelatedWork W2007471104 @default.
- W1983130849 hasRelatedWork W2011883498 @default.
- W1983130849 hasRelatedWork W2036780409 @default.
- W1983130849 hasRelatedWork W2051673303 @default.
- W1983130849 hasRelatedWork W2088671134 @default.
- W1983130849 hasRelatedWork W2170550147 @default.
- W1983130849 hasRelatedWork W2215305983 @default.
- W1983130849 hasRelatedWork W2308736777 @default.
- W1983130849 hasVolume "71" @default.
- W1983130849 isParatext "false" @default.
- W1983130849 isRetracted "false" @default.
- W1983130849 magId "1983130849" @default.
- W1983130849 workType "article" @default.