FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2100066086> ?p ?o ?g. }

• W2100066086 endingPage "540" @default.
• W2100066086 startingPage "535" @default.
• W2100066086 abstract "In 1972, Fried described a large Scottish family affected by X linked mental retardation (XLMR), hydrocephalus, and mild facial dysmorphism. The phenotype has considerable similarity to the MASA syndrome, which results from mutations of the L1CAM gene in Xq28, and this family has since been assumed to be an example of this condition. We have reinvestigated the family for linkage to X chromosome markers, and obtained additional clinical information on surviving affected subjects. The phenotype in these patients has evolved into a distinctive syndrome, with severe mental retardation (MR), spastic diplegia, ventricular dilatation, and calcification of the basal ganglia. Linkage to Xq28 markers has been excluded, suggesting that Fried syndrome is not allelic with MASA syndrome. Two point and multipoint linkage analysis indicates that the gene for this condition lies within the interval KAL-DXS989 in Xp22. We propose the designation Fried syndrome to emphasise the disorder9s distinctive phenotype." @default.
• W2100066086 created "2016-06-24" @default.
• W2100066086 creator A5008230485 @default.
• W2100066086 creator A5038754792 @default.
• W2100066086 creator A5074307726 @default.
• W2100066086 date "1997-07-01" @default.
• W2100066086 modified "2023-09-23" @default.
• W2100066086 title "Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22." @default.
• W2100066086 cites W120968873 @default.
• W2100066086 cites W1483909897 @default.
• W2100066086 cites W1604929717 @default.
• W2100066086 cites W194034586 @default.
• W2100066086 cites W1965250225 @default.
• W2100066086 cites W1965477080 @default.
• W2100066086 cites W1975394442 @default.
• W2100066086 cites W1984439989 @default.
• W2100066086 cites W1993853631 @default.
• W2100066086 cites W2000399347 @default.
• W2100066086 cites W2004583463 @default.
• W2100066086 cites W2004986948 @default.
• W2100066086 cites W2007563515 @default.
• W2100066086 cites W2010348717 @default.
• W2100066086 cites W2026432925 @default.
• W2100066086 cites W2029039818 @default.
• W2100066086 cites W2031936049 @default.
• W2100066086 cites W2034548000 @default.
• W2100066086 cites W2039482405 @default.
• W2100066086 cites W2040711384 @default.
• W2100066086 cites W2042837521 @default.
• W2100066086 cites W2058463652 @default.
• W2100066086 cites W2059834237 @default.
• W2100066086 cites W2061741131 @default.
• W2100066086 cites W2066122853 @default.
• W2100066086 cites W2067504691 @default.
• W2100066086 cites W2084108895 @default.
• W2100066086 cites W2085736144 @default.
• W2100066086 cites W2101453104 @default.
• W2100066086 cites W2119102637 @default.
• W2100066086 cites W2167119720 @default.
• W2100066086 cites W2169512077 @default.
• W2100066086 cites W4234942685 @default.
• W2100066086 cites W991453543 @default.
• W2100066086 cites W1987841625 @default.
• W2100066086 doi "https://doi.org/10.1136/jmg.34.7.535" @default.
• W2100066086 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1050991" @default.
• W2100066086 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9222959" @default.
• W2100066086 hasPublicationYear "1997" @default.
• W2100066086 type Work @default.
• W2100066086 sameAs 2100066086 @default.
• W2100066086 citedByCount "21" @default.
• W2100066086 countsByYear W21000660862013 @default.
• W2100066086 countsByYear W21000660862014 @default.
• W2100066086 countsByYear W21000660862016 @default.
• W2100066086 countsByYear W21000660862018 @default.
• W2100066086 countsByYear W21000660862019 @default.
• W2100066086 countsByYear W21000660862023 @default.
• W2100066086 crossrefType "journal-article" @default.
• W2100066086 hasAuthorship W2100066086A5008230485 @default.
• W2100066086 hasAuthorship W2100066086A5038754792 @default.
• W2100066086 hasAuthorship W2100066086A5074307726 @default.
• W2100066086 hasBestOaLocation W21000660861 @default.
• W2100066086 hasConcept C104317684 @default.
• W2100066086 hasConcept C134018914 @default.
• W2100066086 hasConcept C142870003 @default.
• W2100066086 hasConcept C2777082864 @default.
• W2100066086 hasConcept C2777871287 @default.
• W2100066086 hasConcept C35158069 @default.
• W2100066086 hasConcept C54355233 @default.
• W2100066086 hasConcept C86803240 @default.
• W2100066086 hasConceptScore W2100066086C104317684 @default.
• W2100066086 hasConceptScore W2100066086C134018914 @default.
• W2100066086 hasConceptScore W2100066086C142870003 @default.
• W2100066086 hasConceptScore W2100066086C2777082864 @default.
• W2100066086 hasConceptScore W2100066086C2777871287 @default.
• W2100066086 hasConceptScore W2100066086C35158069 @default.
• W2100066086 hasConceptScore W2100066086C54355233 @default.
• W2100066086 hasConceptScore W2100066086C86803240 @default.
• W2100066086 hasIssue "7" @default.
• W2100066086 hasLocation W21000660861 @default.
• W2100066086 hasLocation W21000660862 @default.
• W2100066086 hasLocation W21000660863 @default.
• W2100066086 hasLocation W21000660864 @default.
• W2100066086 hasOpenAccess W2100066086 @default.
• W2100066086 hasPrimaryLocation W21000660861 @default.
• W2100066086 hasRelatedWork W1968981945 @default.
• W2100066086 hasRelatedWork W1993232694 @default.
• W2100066086 hasRelatedWork W1998440670 @default.
• W2100066086 hasRelatedWork W2002560522 @default.
• W2100066086 hasRelatedWork W2006884799 @default.
• W2100066086 hasRelatedWork W2071117507 @default.
• W2100066086 hasRelatedWork W2075908125 @default.
• W2100066086 hasRelatedWork W2093999606 @default.
• W2100066086 hasRelatedWork W2164296027 @default.
• W2100066086 hasRelatedWork W2415200047 @default.
• W2100066086 hasVolume "34" @default.
• W2100066086 isParatext "false" @default.
• W2100066086 isRetracted "false" @default.
• W2100066086 magId "2100066086" @default.

• next