Matches in SemOpenAlex for { <https://semopenalex.org/work/W1996507669> ?p ?o ?g. }
- W1996507669 endingPage "1314" @default.
- W1996507669 startingPage "1311" @default.
- W1996507669 abstract "Intellectual disability is common. Aristaless-related homeobox (ARX) gene is one of the most frequently mutated and pleiotropic genes, implicated in 10 different phenotypes. More than half of ~100 reported cases with ARX mutations are due to a recurrent duplication of 24 bp, c.429_452dup, which leads to polyalanine tract expansion. The excess of affected males among the offspring of the obligate carrier females raised the possibility of transmission ratio distortion for the c.429_452dup mutation. We found a significant deviation from the expected Mendelian 1:1 ratio of transmission in favour of the c.429_452dup ARX mutation. We hypothesise that the preferential transmission of the c.429_452dup mutation may be due to asymmetry of meiosis in the oocyte. Our findings may have implications for genetic counselling of families segregating the c.429_452dup mutation and allude to putative role of ARX in oocyte biology." @default.
- W1996507669 created "2016-06-24" @default.
- W1996507669 creator A5007870842 @default.
- W1996507669 creator A5016228050 @default.
- W1996507669 creator A5032312586 @default.
- W1996507669 creator A5042693721 @default.
- W1996507669 creator A5058446185 @default.
- W1996507669 creator A5072815495 @default.
- W1996507669 date "2012-04-11" @default.
- W1996507669 modified "2023-10-10" @default.
- W1996507669 title "Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?" @default.
- W1996507669 cites W1563991125 @default.
- W1996507669 cites W1786115620 @default.
- W1996507669 cites W1794475131 @default.
- W1996507669 cites W1877319790 @default.
- W1996507669 cites W1965525075 @default.
- W1996507669 cites W1968832758 @default.
- W1996507669 cites W1971248901 @default.
- W1996507669 cites W1986097552 @default.
- W1996507669 cites W1989137136 @default.
- W1996507669 cites W1996258172 @default.
- W1996507669 cites W1996379281 @default.
- W1996507669 cites W2007856496 @default.
- W1996507669 cites W2016345427 @default.
- W1996507669 cites W2016461532 @default.
- W1996507669 cites W2019892841 @default.
- W1996507669 cites W2029859027 @default.
- W1996507669 cites W2032586761 @default.
- W1996507669 cites W2036938529 @default.
- W1996507669 cites W2046087472 @default.
- W1996507669 cites W2047498240 @default.
- W1996507669 cites W2049241592 @default.
- W1996507669 cites W2051082571 @default.
- W1996507669 cites W2056063256 @default.
- W1996507669 cites W2056180973 @default.
- W1996507669 cites W2058310233 @default.
- W1996507669 cites W2067227434 @default.
- W1996507669 cites W2078811772 @default.
- W1996507669 cites W2084344840 @default.
- W1996507669 cites W2086806188 @default.
- W1996507669 cites W2087036829 @default.
- W1996507669 cites W2088431154 @default.
- W1996507669 cites W2107595751 @default.
- W1996507669 cites W2113041268 @default.
- W1996507669 cites W2115599568 @default.
- W1996507669 cites W2119655931 @default.
- W1996507669 cites W2120042633 @default.
- W1996507669 cites W2125110469 @default.
- W1996507669 cites W2126589244 @default.
- W1996507669 cites W2133769759 @default.
- W1996507669 cites W2138746419 @default.
- W1996507669 cites W2145706279 @default.
- W1996507669 cites W2151021554 @default.
- W1996507669 cites W2151332466 @default.
- W1996507669 cites W2161317138 @default.
- W1996507669 cites W2165736134 @default.
- W1996507669 cites W982381310 @default.
- W1996507669 doi "https://doi.org/10.1038/ejhg.2012.61" @default.
- W1996507669 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3499743" @default.
- W1996507669 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22490986" @default.
- W1996507669 hasPublicationYear "2012" @default.
- W1996507669 type Work @default.
- W1996507669 sameAs 1996507669 @default.
- W1996507669 citedByCount "9" @default.
- W1996507669 countsByYear W19965076692012 @default.
- W1996507669 countsByYear W19965076692013 @default.
- W1996507669 countsByYear W19965076692016 @default.
- W1996507669 countsByYear W19965076692019 @default.
- W1996507669 countsByYear W19965076692020 @default.
- W1996507669 countsByYear W19965076692021 @default.
- W1996507669 countsByYear W19965076692023 @default.
- W1996507669 crossrefType "journal-article" @default.
- W1996507669 hasAuthorship W1996507669A5007870842 @default.
- W1996507669 hasAuthorship W1996507669A5016228050 @default.
- W1996507669 hasAuthorship W1996507669A5032312586 @default.
- W1996507669 hasAuthorship W1996507669A5042693721 @default.
- W1996507669 hasAuthorship W1996507669A5058446185 @default.
- W1996507669 hasAuthorship W1996507669A5072815495 @default.
- W1996507669 hasBestOaLocation W19965076691 @default.
- W1996507669 hasConcept C104317684 @default.
- W1996507669 hasConcept C119599485 @default.
- W1996507669 hasConcept C127413603 @default.
- W1996507669 hasConcept C127716648 @default.
- W1996507669 hasConcept C148196450 @default.
- W1996507669 hasConcept C175783326 @default.
- W1996507669 hasConcept C18903297 @default.
- W1996507669 hasConcept C24586158 @default.
- W1996507669 hasConcept C24990904 @default.
- W1996507669 hasConcept C501734568 @default.
- W1996507669 hasConcept C54355233 @default.
- W1996507669 hasConcept C54809848 @default.
- W1996507669 hasConcept C69218264 @default.
- W1996507669 hasConcept C7602840 @default.
- W1996507669 hasConcept C761482 @default.
- W1996507669 hasConcept C86803240 @default.
- W1996507669 hasConceptScore W1996507669C104317684 @default.
- W1996507669 hasConceptScore W1996507669C119599485 @default.
- W1996507669 hasConceptScore W1996507669C127413603 @default.