FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2008807795> ?p ?o ?g. }

• W2008807795 endingPage "523" @default.
• W2008807795 startingPage "511" @default.
• W2008807795 abstract "To study the instability of FMR1 triplet repeats in the general population, we screened a prospective sample of 24,449 anonymized mother–offspring pairs and analyzed transmissions of intermediate‐size (45–54 triplets) and premutation‐size (55–200 triplets) alleles. We screened all mothers for alleles ≥ 45 triplets by Southern blot and studied transmission of 545 maternal alleles to their offspring using polymerase chain reaction. Out of 21,411 maternal samples with conclusive results, we identified 250 carriers of at least one intermediate‐size allele and 39 carrying a premutation‐size allele. Out of a subsample of 430 transmissions of normal‐size alleles (< 45 triplets), we observed four (< 1%) unstable transmissions. There were 6/90 intermediate‐size unstable alleles (7%) and 11/25 unstable premutation‐size alleles (44%). Two mothers transmitted a typical full mutation. The incidence of fragile X syndrome was thus 1/12,225 newborns (upper limit of 95% confidence interval: 1/4638 newborns), but larger in males (1/6209) than females (none detected in over 12,000 newborn females). Intermediate‐size alleles were more unstable than normal‐size alleles ( p = 0.0027), but more stable (about sixfold) than premutation‐size alleles ( p < 0.0001). Unstable premutation‐size alleles harbored the major fragile X haplotype (T50‐T42‐T62), and this haplotype appeared to be a good predictor of instability in premutations ( p = 0.02). Incidence and instability are important to determine the feasibility and cost effectiveness of putative FMR1 screening programs. Carriers of FMR1 alleles of 55+ triplets with no family history of the disease may have a significant risk of expansion to a full mutation in a single generation." @default.
• W2008807795 created "2016-06-24" @default.
• W2008807795 creator A5002893227 @default.
• W2008807795 creator A5015369294 @default.
• W2008807795 creator A5016797250 @default.
• W2008807795 creator A5022466148 @default.
• W2008807795 creator A5028618639 @default.
• W2008807795 creator A5039998960 @default.
• W2008807795 creator A5057165446 @default.
• W2008807795 creator A5064417697 @default.
• W2008807795 date "2009-11-20" @default.
• W2008807795 modified "2023-10-17" @default.
• W2008807795 title "Screening and instability of<i>FMR1</i>alleles in a prospective sample of 24,449 mother–newborn pairs from the general population" @default.
• W2008807795 cites W1558348929 @default.
• W2008807795 cites W1561540396 @default.
• W2008807795 cites W1970959170 @default.
• W2008807795 cites W1972711321 @default.
• W2008807795 cites W1980569671 @default.
• W2008807795 cites W1981298762 @default.
• W2008807795 cites W1985498343 @default.
• W2008807795 cites W1992622730 @default.
• W2008807795 cites W2000064832 @default.
• W2008807795 cites W2001588996 @default.
• W2008807795 cites W2002780348 @default.
• W2008807795 cites W2015853963 @default.
• W2008807795 cites W2019832293 @default.
• W2008807795 cites W2030430162 @default.
• W2008807795 cites W2030498602 @default.
• W2008807795 cites W2040316692 @default.
• W2008807795 cites W2048215103 @default.
• W2008807795 cites W2051013729 @default.
• W2008807795 cites W2052031191 @default.
• W2008807795 cites W2062182658 @default.
• W2008807795 cites W2077027461 @default.
• W2008807795 cites W2089543835 @default.
• W2008807795 cites W2092479476 @default.
• W2008807795 cites W2095782637 @default.
• W2008807795 cites W2100770813 @default.
• W2008807795 cites W2108191361 @default.
• W2008807795 cites W2112140748 @default.
• W2008807795 cites W2128628371 @default.
• W2008807795 cites W2135732252 @default.
• W2008807795 cites W2136448955 @default.
• W2008807795 cites W2139424308 @default.
• W2008807795 cites W2144550671 @default.
• W2008807795 cites W2148191226 @default.
• W2008807795 cites W2165917614 @default.
• W2008807795 cites W2166567981 @default.
• W2008807795 cites W2415805387 @default.
• W2008807795 cites W4238966542 @default.
• W2008807795 cites W4378744814 @default.
• W2008807795 doi "https://doi.org/10.1111/j.1399-0004.2009.01237.x" @default.
• W2008807795 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19863547" @default.
• W2008807795 hasPublicationYear "2009" @default.
• W2008807795 type Work @default.
• W2008807795 sameAs 2008807795 @default.
• W2008807795 citedByCount "37" @default.
• W2008807795 countsByYear W20088077952012 @default.
• W2008807795 countsByYear W20088077952013 @default.
• W2008807795 countsByYear W20088077952014 @default.
• W2008807795 countsByYear W20088077952016 @default.
• W2008807795 countsByYear W20088077952017 @default.
• W2008807795 countsByYear W20088077952019 @default.
• W2008807795 countsByYear W20088077952021 @default.
• W2008807795 countsByYear W20088077952022 @default.
• W2008807795 countsByYear W20088077952023 @default.
• W2008807795 crossrefType "journal-article" @default.
• W2008807795 hasAuthorship W2008807795A5002893227 @default.
• W2008807795 hasAuthorship W2008807795A5015369294 @default.
• W2008807795 hasAuthorship W2008807795A5016797250 @default.
• W2008807795 hasAuthorship W2008807795A5022466148 @default.
• W2008807795 hasAuthorship W2008807795A5028618639 @default.
• W2008807795 hasAuthorship W2008807795A5039998960 @default.
• W2008807795 hasAuthorship W2008807795A5057165446 @default.
• W2008807795 hasAuthorship W2008807795A5064417697 @default.
• W2008807795 hasConcept C104317684 @default.
• W2008807795 hasConcept C112672928 @default.
• W2008807795 hasConcept C126322002 @default.
• W2008807795 hasConcept C180754005 @default.
• W2008807795 hasConcept C197754878 @default.
• W2008807795 hasConcept C2777630245 @default.
• W2008807795 hasConcept C2779063550 @default.
• W2008807795 hasConcept C2779234561 @default.
• W2008807795 hasConcept C2908647359 @default.
• W2008807795 hasConcept C44249647 @default.
• W2008807795 hasConcept C54355233 @default.
• W2008807795 hasConcept C71924100 @default.
• W2008807795 hasConcept C86803240 @default.
• W2008807795 hasConcept C99454951 @default.
• W2008807795 hasConceptScore W2008807795C104317684 @default.
• W2008807795 hasConceptScore W2008807795C112672928 @default.
• W2008807795 hasConceptScore W2008807795C126322002 @default.
• W2008807795 hasConceptScore W2008807795C180754005 @default.
• W2008807795 hasConceptScore W2008807795C197754878 @default.
• W2008807795 hasConceptScore W2008807795C2777630245 @default.
• W2008807795 hasConceptScore W2008807795C2779063550 @default.
• W2008807795 hasConceptScore W2008807795C2779234561 @default.
• W2008807795 hasConceptScore W2008807795C2908647359 @default.

• next