Matches in SemOpenAlex for { <https://semopenalex.org/work/W181877887> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W181877887 endingPage "10" @default.
- W181877887 startingPage "804" @default.
- W181877887 abstract "A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported. A balanced X;20 chromosomal translocation with the X chromosome breakpoint at q26.1 was found with high-resolution trypsin-Giemsa banding. Somatic cell hybridization was used to separate the X chromosome derivative and the chromosome 20 derivative in order to position, with respect to the translocation breakpoint, several DNA loci that are linked to the Lowe syndrome locus (Xq24-q26). DXS10 and DXS53 were found to be distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. These studies suggest that the OCRL locus lies in the region between these probes. The translocation chromosome originated from an unaffected male without a visible translocation, indicating that the most likely cause of OCRL in this patient is the de novo translocation that disrupted the OCRL locus." @default.
- W181877887 created "2016-06-24" @default.
- W181877887 creator A5024430260 @default.
- W181877887 creator A5031087894 @default.
- W181877887 creator A5048918792 @default.
- W181877887 creator A5068490032 @default.
- W181877887 creator A5073596843 @default.
- W181877887 creator A5074400817 @default.
- W181877887 creator A5082904694 @default.
- W181877887 date "1991-10-01" @default.
- W181877887 modified "2023-09-23" @default.
- W181877887 title "Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint." @default.
- W181877887 cites W2014669590 @default.
- W181877887 cites W2031303317 @default.
- W181877887 cites W2048061983 @default.
- W181877887 cites W2062006489 @default.
- W181877887 cites W2078758284 @default.
- W181877887 cites W2134089103 @default.
- W181877887 cites W2135317815 @default.
- W181877887 cites W2334638778 @default.
- W181877887 cites W2466607343 @default.
- W181877887 cites W4236492884 @default.
- W181877887 cites W76319097 @default.
- W181877887 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1683175" @default.
- W181877887 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1897526" @default.
- W181877887 hasPublicationYear "1991" @default.
- W181877887 type Work @default.
- W181877887 sameAs 181877887 @default.
- W181877887 citedByCount "13" @default.
- W181877887 countsByYear W1818778872015 @default.
- W181877887 countsByYear W1818778872017 @default.
- W181877887 countsByYear W1818778872019 @default.
- W181877887 crossrefType "journal-article" @default.
- W181877887 hasAuthorship W181877887A5024430260 @default.
- W181877887 hasAuthorship W181877887A5031087894 @default.
- W181877887 hasAuthorship W181877887A5048918792 @default.
- W181877887 hasAuthorship W181877887A5068490032 @default.
- W181877887 hasAuthorship W181877887A5073596843 @default.
- W181877887 hasAuthorship W181877887A5074400817 @default.
- W181877887 hasAuthorship W181877887A5082904694 @default.
- W181877887 hasConcept C104317684 @default.
- W181877887 hasConcept C138626823 @default.
- W181877887 hasConcept C15151550 @default.
- W181877887 hasConcept C153911025 @default.
- W181877887 hasConcept C206936463 @default.
- W181877887 hasConcept C30481170 @default.
- W181877887 hasConcept C35158069 @default.
- W181877887 hasConcept C53226629 @default.
- W181877887 hasConcept C54355233 @default.
- W181877887 hasConcept C54815482 @default.
- W181877887 hasConcept C84597430 @default.
- W181877887 hasConcept C86803240 @default.
- W181877887 hasConceptScore W181877887C104317684 @default.
- W181877887 hasConceptScore W181877887C138626823 @default.
- W181877887 hasConceptScore W181877887C15151550 @default.
- W181877887 hasConceptScore W181877887C153911025 @default.
- W181877887 hasConceptScore W181877887C206936463 @default.
- W181877887 hasConceptScore W181877887C30481170 @default.
- W181877887 hasConceptScore W181877887C35158069 @default.
- W181877887 hasConceptScore W181877887C53226629 @default.
- W181877887 hasConceptScore W181877887C54355233 @default.
- W181877887 hasConceptScore W181877887C54815482 @default.
- W181877887 hasConceptScore W181877887C84597430 @default.
- W181877887 hasConceptScore W181877887C86803240 @default.
- W181877887 hasIssue "4" @default.
- W181877887 hasLocation W1818778871 @default.
- W181877887 hasOpenAccess W181877887 @default.
- W181877887 hasPrimaryLocation W1818778871 @default.
- W181877887 hasRelatedWork W1988743583 @default.
- W181877887 hasRelatedWork W1999491559 @default.
- W181877887 hasRelatedWork W2003307406 @default.
- W181877887 hasRelatedWork W2017071147 @default.
- W181877887 hasRelatedWork W2047589204 @default.
- W181877887 hasRelatedWork W2053776841 @default.
- W181877887 hasRelatedWork W2055521891 @default.
- W181877887 hasRelatedWork W2067518194 @default.
- W181877887 hasRelatedWork W2078397690 @default.
- W181877887 hasRelatedWork W2784866836 @default.
- W181877887 hasVolume "49" @default.
- W181877887 isParatext "false" @default.
- W181877887 isRetracted "false" @default.
- W181877887 magId "181877887" @default.
- W181877887 workType "article" @default.