FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2056219162> ?p ?o ?g. }

• W2056219162 endingPage "1188" @default.
• W2056219162 startingPage "1178" @default.
• W2056219162 abstract "A heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X-rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at-risk males is approximately 9%, and estimated penetrance in at-risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third-degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. © 2010 Wiley-Liss, Inc." @default.
• W2056219162 created "2016-06-24" @default.
• W2056219162 creator A5015222211 @default.
• W2056219162 creator A5032359025 @default.
• W2056219162 creator A5052712502 @default.
• W2056219162 creator A5070239002 @default.
• W2056219162 creator A5074439534 @default.
• W2056219162 creator A5079132003 @default.
• W2056219162 creator A5084086423 @default.
• W2056219162 date "2010-05-01" @default.
• W2056219162 modified "2023-10-18" @default.
• W2056219162 title "Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah" @default.
• W2056219162 cites W1507312197 @default.
• W2056219162 cites W1595767337 @default.
• W2056219162 cites W1964811752 @default.
• W2056219162 cites W1989795189 @default.
• W2056219162 cites W2001277182 @default.
• W2056219162 cites W2006305910 @default.
• W2056219162 cites W2013145231 @default.
• W2056219162 cites W2013832917 @default.
• W2056219162 cites W2017309660 @default.
• W2056219162 cites W2027315680 @default.
• W2056219162 cites W2029817380 @default.
• W2056219162 cites W2031745287 @default.
• W2056219162 cites W2042396685 @default.
• W2056219162 cites W2044066683 @default.
• W2056219162 cites W2063537184 @default.
• W2056219162 cites W2080023232 @default.
• W2056219162 cites W2091191485 @default.
• W2056219162 cites W2121986845 @default.
• W2056219162 cites W2134555277 @default.
• W2056219162 cites W2136623850 @default.
• W2056219162 cites W2142635246 @default.
• W2056219162 cites W2147961966 @default.
• W2056219162 cites W2152750261 @default.
• W2056219162 cites W2154134138 @default.
• W2056219162 cites W2184117341 @default.
• W2056219162 cites W2317535067 @default.
• W2056219162 cites W2400842345 @default.
• W2056219162 cites W2408283836 @default.
• W2056219162 cites W2986282766 @default.
• W2056219162 cites W4238761482 @default.
• W2056219162 cites W4293879092 @default.
• W2056219162 doi "https://doi.org/10.1002/ajmg.a.33145" @default.
• W2056219162 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20425822" @default.
• W2056219162 hasPublicationYear "2010" @default.
• W2056219162 type Work @default.
• W2056219162 sameAs 2056219162 @default.
• W2056219162 citedByCount "85" @default.
• W2056219162 countsByYear W20562191622012 @default.
• W2056219162 countsByYear W20562191622013 @default.
• W2056219162 countsByYear W20562191622014 @default.
• W2056219162 countsByYear W20562191622015 @default.
• W2056219162 countsByYear W20562191622016 @default.
• W2056219162 countsByYear W20562191622017 @default.
• W2056219162 countsByYear W20562191622018 @default.
• W2056219162 countsByYear W20562191622019 @default.
• W2056219162 countsByYear W20562191622020 @default.
• W2056219162 countsByYear W20562191622021 @default.
• W2056219162 countsByYear W20562191622022 @default.
• W2056219162 countsByYear W20562191622023 @default.
• W2056219162 crossrefType "journal-article" @default.
• W2056219162 hasAuthorship W2056219162A5015222211 @default.
• W2056219162 hasAuthorship W2056219162A5032359025 @default.
• W2056219162 hasAuthorship W2056219162A5052712502 @default.
• W2056219162 hasAuthorship W2056219162A5070239002 @default.
• W2056219162 hasAuthorship W2056219162A5074439534 @default.
• W2056219162 hasAuthorship W2056219162A5079132003 @default.
• W2056219162 hasAuthorship W2056219162A5084086423 @default.
• W2056219162 hasConcept C104317684 @default.
• W2056219162 hasConcept C106934330 @default.
• W2056219162 hasConcept C126322002 @default.
• W2056219162 hasConcept C127716648 @default.
• W2056219162 hasConcept C144024400 @default.
• W2056219162 hasConcept C149923435 @default.
• W2056219162 hasConcept C161890455 @default.
• W2056219162 hasConcept C180754005 @default.
• W2056219162 hasConcept C188997412 @default.
• W2056219162 hasConcept C199360897 @default.
• W2056219162 hasConcept C200544954 @default.
• W2056219162 hasConcept C203083617 @default.
• W2056219162 hasConcept C2779862289 @default.
• W2056219162 hasConcept C2780955175 @default.
• W2056219162 hasConcept C2781179581 @default.
• W2056219162 hasConcept C2908647359 @default.
• W2056219162 hasConcept C41008148 @default.
• W2056219162 hasConcept C501734568 @default.
• W2056219162 hasConcept C54355233 @default.
• W2056219162 hasConcept C71924100 @default.
• W2056219162 hasConcept C81941488 @default.
• W2056219162 hasConcept C86803240 @default.
• W2056219162 hasConceptScore W2056219162C104317684 @default.
• W2056219162 hasConceptScore W2056219162C106934330 @default.
• W2056219162 hasConceptScore W2056219162C126322002 @default.
• W2056219162 hasConceptScore W2056219162C127716648 @default.
• W2056219162 hasConceptScore W2056219162C144024400 @default.
• W2056219162 hasConceptScore W2056219162C149923435 @default.
• W2056219162 hasConceptScore W2056219162C161890455 @default.

• next