Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014592029> ?p ?o ?g. }
- W2014592029 endingPage "198" @default.
- W2014592029 startingPage "190" @default.
- W2014592029 abstract "In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number of KpnI repeats in the 4q35 region, although no specific transcripts from this locus have been isolated so far. Molecular diagnosis is based on the detection by probe p13E-11 of EcoRI small fragments, in the range 10-28 kb, that are resistant to BlnI digestion. In family studies this probe is used with other 4q35 polymorphic markers to assign the haplotype associated with the disease. So far, we performed DNA analysis in 145 FSHD families and identified the 4q35 DNA rearrangement not only in affected individuals, but also in healthy subjects at risk of transmitting the disease, such as non-penetrant gene carriers and somatic mosaics. In addition we applied prenatal tests to 19 fetuses, using DNA extracted from chorionic villi samples (CVS) at 10-11 weeks of gestation. The FSHD status, as determined by the presence of BlnI-resistant small fragments associated with the at risk haplotype, was assessed in nine fetuses; in the remaining 10 cases the disease was excluded. Our results show that molecular analysis of 4q35 rearrangements is a reliable indirect method to perform diagnostic, predictive and prenatal tests in FSHD." @default.
- W2014592029 created "2016-06-24" @default.
- W2014592029 creator A5003908349 @default.
- W2014592029 creator A5016641239 @default.
- W2014592029 creator A5026279249 @default.
- W2014592029 creator A5028369834 @default.
- W2014592029 creator A5030157018 @default.
- W2014592029 creator A5033939341 @default.
- W2014592029 creator A5047276732 @default.
- W2014592029 creator A5048835667 @default.
- W2014592029 creator A5049757983 @default.
- W2014592029 creator A5071263772 @default.
- W2014592029 creator A5075163412 @default.
- W2014592029 creator A5079517887 @default.
- W2014592029 creator A5079774168 @default.
- W2014592029 creator A5088511358 @default.
- W2014592029 date "1999-05-01" @default.
- W2014592029 modified "2023-10-09" @default.
- W2014592029 title "Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease" @default.
- W2014592029 cites W1964930281 @default.
- W2014592029 cites W1976982067 @default.
- W2014592029 cites W1984116099 @default.
- W2014592029 cites W2007478510 @default.
- W2014592029 cites W2010614380 @default.
- W2014592029 cites W2016109355 @default.
- W2014592029 cites W2025030196 @default.
- W2014592029 cites W2044057928 @default.
- W2014592029 cites W2057029746 @default.
- W2014592029 cites W2060201739 @default.
- W2014592029 cites W2068343493 @default.
- W2014592029 cites W2079242852 @default.
- W2014592029 cites W2082127114 @default.
- W2014592029 cites W2086266326 @default.
- W2014592029 cites W2086775164 @default.
- W2014592029 cites W2088309827 @default.
- W2014592029 cites W2094563600 @default.
- W2014592029 cites W2096539161 @default.
- W2014592029 cites W2104840859 @default.
- W2014592029 cites W2110661291 @default.
- W2014592029 cites W2118094114 @default.
- W2014592029 cites W2118562875 @default.
- W2014592029 cites W2125193229 @default.
- W2014592029 cites W2160995049 @default.
- W2014592029 cites W2163868680 @default.
- W2014592029 cites W2169464461 @default.
- W2014592029 cites W2396497343 @default.
- W2014592029 doi "https://doi.org/10.1016/s0960-8966(98)00116-3" @default.
- W2014592029 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10382915" @default.
- W2014592029 hasPublicationYear "1999" @default.
- W2014592029 type Work @default.
- W2014592029 sameAs 2014592029 @default.
- W2014592029 citedByCount "26" @default.
- W2014592029 countsByYear W20145920292012 @default.
- W2014592029 countsByYear W20145920292013 @default.
- W2014592029 countsByYear W20145920292015 @default.
- W2014592029 countsByYear W20145920292016 @default.
- W2014592029 crossrefType "journal-article" @default.
- W2014592029 hasAuthorship W2014592029A5003908349 @default.
- W2014592029 hasAuthorship W2014592029A5016641239 @default.
- W2014592029 hasAuthorship W2014592029A5026279249 @default.
- W2014592029 hasAuthorship W2014592029A5028369834 @default.
- W2014592029 hasAuthorship W2014592029A5030157018 @default.
- W2014592029 hasAuthorship W2014592029A5033939341 @default.
- W2014592029 hasAuthorship W2014592029A5047276732 @default.
- W2014592029 hasAuthorship W2014592029A5048835667 @default.
- W2014592029 hasAuthorship W2014592029A5049757983 @default.
- W2014592029 hasAuthorship W2014592029A5071263772 @default.
- W2014592029 hasAuthorship W2014592029A5075163412 @default.
- W2014592029 hasAuthorship W2014592029A5079517887 @default.
- W2014592029 hasAuthorship W2014592029A5079774168 @default.
- W2014592029 hasAuthorship W2014592029A5088511358 @default.
- W2014592029 hasConcept C104317684 @default.
- W2014592029 hasConcept C128319531 @default.
- W2014592029 hasConcept C130123407 @default.
- W2014592029 hasConcept C135763542 @default.
- W2014592029 hasConcept C142724271 @default.
- W2014592029 hasConcept C167871757 @default.
- W2014592029 hasConcept C172680121 @default.
- W2014592029 hasConcept C190789776 @default.
- W2014592029 hasConcept C197754878 @default.
- W2014592029 hasConcept C2778258057 @default.
- W2014592029 hasConcept C2779030066 @default.
- W2014592029 hasConcept C2779134260 @default.
- W2014592029 hasConcept C2779234561 @default.
- W2014592029 hasConcept C2779981540 @default.
- W2014592029 hasConcept C54355233 @default.
- W2014592029 hasConcept C552990157 @default.
- W2014592029 hasConcept C71924100 @default.
- W2014592029 hasConcept C80227256 @default.
- W2014592029 hasConcept C84597430 @default.
- W2014592029 hasConcept C86803240 @default.
- W2014592029 hasConceptScore W2014592029C104317684 @default.
- W2014592029 hasConceptScore W2014592029C128319531 @default.
- W2014592029 hasConceptScore W2014592029C130123407 @default.
- W2014592029 hasConceptScore W2014592029C135763542 @default.
- W2014592029 hasConceptScore W2014592029C142724271 @default.
- W2014592029 hasConceptScore W2014592029C167871757 @default.
- W2014592029 hasConceptScore W2014592029C172680121 @default.