Matches in SemOpenAlex for { <https://semopenalex.org/work/W1981025535> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W1981025535 endingPage "465" @default.
- W1981025535 startingPage "458" @default.
- W1981025535 abstract "The fragile X syndrome is caused by an unstable CGG repeat sequence in the 5' untranslated region of the X-linked, FMR1 gene. When the number of repeats exceeds 200, the region is hypermethylated and the gene is silenced. The lack of the protein produced by the FMR1 gene, FMRP, causes the fragile X syndrome. Recent evidence suggests that FMR1 alleles with unmethylated long repeat tracks (40-200 repeats) may cause a specific somatic phenotype in women, premature ovarian failure, and may cause variation in the levels of FMR1 mRNA and FMRP. Because FMR1 is known to be involved in the regulation of subset of genes expressed in the brain, we investigated the variation in cognitive and/or behavioral performance among carriers of high repeat alleles. Specifically, we administered cognitive, behavioral, and adaptive performance tests to children identified with high repeat alleles who attended special education classes in Atlanta, Georgia public schools and to those with < 40 repeats drawn from the same population. Overall, we found no significant effect of repeat size and the psychometric measures in our test battery after adjustment for multiple comparisons. All scales were found to be within 1 SD standard deviation of the mean. We did find an intriguing, albeit marginally statistically significant, association in the cognitive profile among males and not females, consistent with an X-linked effect. After adjusting for the overall cognitive abilities score, Verbal Ability scores decreased and Nonverbal Reasoning scores increased with repeat number to a greater extent in males than females. Spatial Ability scores were not associated with repeat number." @default.
- W1981025535 created "2016-06-24" @default.
- W1981025535 creator A5007261659 @default.
- W1981025535 creator A5013160412 @default.
- W1981025535 creator A5040874512 @default.
- W1981025535 creator A5046083954 @default.
- W1981025535 creator A5060285217 @default.
- W1981025535 creator A5070701542 @default.
- W1981025535 date "2002-03-14" @default.
- W1981025535 modified "2023-10-18" @default.
- W1981025535 title "Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes" @default.
- W1981025535 cites W1977651155 @default.
- W1981025535 cites W2002780348 @default.
- W1981025535 cites W2005078842 @default.
- W1981025535 cites W2018912281 @default.
- W1981025535 cites W2036338927 @default.
- W1981025535 cites W2052031191 @default.
- W1981025535 cites W2082787162 @default.
- W1981025535 cites W2084162673 @default.
- W1981025535 cites W2096252283 @default.
- W1981025535 cites W2120936158 @default.
- W1981025535 cites W2129246850 @default.
- W1981025535 cites W2136448955 @default.
- W1981025535 cites W2137987527 @default.
- W1981025535 cites W2149919973 @default.
- W1981025535 cites W2167119720 @default.
- W1981025535 doi "https://doi.org/10.1002/ajmg.10303" @default.
- W1981025535 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11992571" @default.
- W1981025535 hasPublicationYear "2002" @default.
- W1981025535 type Work @default.
- W1981025535 sameAs 1981025535 @default.
- W1981025535 citedByCount "20" @default.
- W1981025535 countsByYear W19810255352012 @default.
- W1981025535 countsByYear W19810255352013 @default.
- W1981025535 countsByYear W19810255352016 @default.
- W1981025535 countsByYear W19810255352018 @default.
- W1981025535 crossrefType "journal-article" @default.
- W1981025535 hasAuthorship W1981025535A5007261659 @default.
- W1981025535 hasAuthorship W1981025535A5013160412 @default.
- W1981025535 hasAuthorship W1981025535A5040874512 @default.
- W1981025535 hasAuthorship W1981025535A5046083954 @default.
- W1981025535 hasAuthorship W1981025535A5060285217 @default.
- W1981025535 hasAuthorship W1981025535A5070701542 @default.
- W1981025535 hasConcept C104317684 @default.
- W1981025535 hasConcept C15744967 @default.
- W1981025535 hasConcept C166252455 @default.
- W1981025535 hasConcept C169760540 @default.
- W1981025535 hasConcept C169900460 @default.
- W1981025535 hasConcept C180754005 @default.
- W1981025535 hasConcept C2777630245 @default.
- W1981025535 hasConcept C2779063550 @default.
- W1981025535 hasConcept C2908647359 @default.
- W1981025535 hasConcept C54355233 @default.
- W1981025535 hasConcept C6057870 @default.
- W1981025535 hasConcept C71924100 @default.
- W1981025535 hasConcept C86803240 @default.
- W1981025535 hasConcept C99454951 @default.
- W1981025535 hasConceptScore W1981025535C104317684 @default.
- W1981025535 hasConceptScore W1981025535C15744967 @default.
- W1981025535 hasConceptScore W1981025535C166252455 @default.
- W1981025535 hasConceptScore W1981025535C169760540 @default.
- W1981025535 hasConceptScore W1981025535C169900460 @default.
- W1981025535 hasConceptScore W1981025535C180754005 @default.
- W1981025535 hasConceptScore W1981025535C2777630245 @default.
- W1981025535 hasConceptScore W1981025535C2779063550 @default.
- W1981025535 hasConceptScore W1981025535C2908647359 @default.
- W1981025535 hasConceptScore W1981025535C54355233 @default.
- W1981025535 hasConceptScore W1981025535C6057870 @default.
- W1981025535 hasConceptScore W1981025535C71924100 @default.
- W1981025535 hasConceptScore W1981025535C86803240 @default.
- W1981025535 hasConceptScore W1981025535C99454951 @default.
- W1981025535 hasIssue "4" @default.
- W1981025535 hasLocation W19810255351 @default.
- W1981025535 hasLocation W19810255352 @default.
- W1981025535 hasOpenAccess W1981025535 @default.
- W1981025535 hasPrimaryLocation W19810255351 @default.
- W1981025535 hasRelatedWork W1710017602 @default.
- W1981025535 hasRelatedWork W2051219679 @default.
- W1981025535 hasRelatedWork W2097927344 @default.
- W1981025535 hasRelatedWork W2111414408 @default.
- W1981025535 hasRelatedWork W2129698270 @default.
- W1981025535 hasRelatedWork W2131956972 @default.
- W1981025535 hasRelatedWork W2206878491 @default.
- W1981025535 hasRelatedWork W3008199611 @default.
- W1981025535 hasRelatedWork W3130501390 @default.
- W1981025535 hasRelatedWork W4300497241 @default.
- W1981025535 hasVolume "114" @default.
- W1981025535 isParatext "false" @default.
- W1981025535 isRetracted "false" @default.
- W1981025535 magId "1981025535" @default.
- W1981025535 workType "article" @default.