FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2804082209> ?p ?o ?g. }

• W2804082209 endingPage "598" @default.
• W2804082209 startingPage "594" @default.
• W2804082209 abstract "Introduction Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. Objective The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes. Methods Data from 355 patients with PWS from the Rare Diseases Clinical Research Network PWS registry were used to analyse multiple maternal and neonatal factors collected during an 8-year multisite study. Results Among our cohort of 355 patients with PWS (61% deletion, 36% UPD and 3% imprinting defect) 54% were born by caesarean section, 26% were born prematurely and 34% with a low birth weight (frequencies 32%, 9.6% and 8.1%, respectively, in the general population). Fetal movements were reported as decreased in 72%. All babies were hypotonic, and 99% had feeding difficulties. Low Apgar scores (<7) were noted in 17.7% and 5.6% of patients, respectively, compared with 1% and 1.4%, respectively, in the general population. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (p=0.01 and <0.001, respectively). Conclusion We found a higher rate of perinatal complications in PWS syndrome compared with the general population. No significant differences in the genetic subtypes were noted except for a higher maternal age and pre-pregnancy weight in the UPD subgroup" @default.
• W2804082209 created "2018-06-01" @default.
• W2804082209 creator A5005691722 @default.
• W2804082209 creator A5014135497 @default.
• W2804082209 creator A5020502704 @default.
• W2804082209 creator A5039874120 @default.
• W2804082209 creator A5045905377 @default.
• W2804082209 creator A5054611483 @default.
• W2804082209 creator A5060965138 @default.
• W2804082209 creator A5073524560 @default.
• W2804082209 creator A5074219685 @default.
• W2804082209 creator A5076453416 @default.
• W2804082209 date "2018-05-18" @default.
• W2804082209 modified "2023-10-14" @default.
• W2804082209 title "Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome" @default.
• W2804082209 cites W1578646984 @default.
• W2804082209 cites W1922423641 @default.
• W2804082209 cites W1980782305 @default.
• W2804082209 cites W1988682537 @default.
• W2804082209 cites W1998358364 @default.
• W2804082209 cites W2005892521 @default.
• W2804082209 cites W2028500147 @default.
• W2804082209 cites W2033745960 @default.
• W2804082209 cites W2039055915 @default.
• W2804082209 cites W2052565487 @default.
• W2804082209 cites W2061019229 @default.
• W2804082209 cites W2061023745 @default.
• W2804082209 cites W2067614317 @default.
• W2804082209 cites W2071751780 @default.
• W2804082209 cites W2114957217 @default.
• W2804082209 cites W2153767269 @default.
• W2804082209 cites W2169243271 @default.
• W2804082209 cites W2407368364 @default.
• W2804082209 cites W2473715554 @default.
• W2804082209 cites W2509279781 @default.
• W2804082209 cites W2528984643 @default.
• W2804082209 cites W2566075861 @default.
• W2804082209 cites W2608944779 @default.
• W2804082209 cites W2731347223 @default.
• W2804082209 doi "https://doi.org/10.1136/jmedgenet-2017-105118" @default.
• W2804082209 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6107376" @default.
• W2804082209 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29776967" @default.
• W2804082209 hasPublicationYear "2018" @default.
• W2804082209 type Work @default.
• W2804082209 sameAs 2804082209 @default.
• W2804082209 citedByCount "21" @default.
• W2804082209 countsByYear W28040822092018 @default.
• W2804082209 countsByYear W28040822092019 @default.
• W2804082209 countsByYear W28040822092020 @default.
• W2804082209 countsByYear W28040822092021 @default.
• W2804082209 countsByYear W28040822092022 @default.
• W2804082209 countsByYear W28040822092023 @default.
• W2804082209 crossrefType "journal-article" @default.
• W2804082209 hasAuthorship W2804082209A5005691722 @default.
• W2804082209 hasAuthorship W2804082209A5014135497 @default.
• W2804082209 hasAuthorship W2804082209A5020502704 @default.
• W2804082209 hasAuthorship W2804082209A5039874120 @default.
• W2804082209 hasAuthorship W2804082209A5045905377 @default.
• W2804082209 hasAuthorship W2804082209A5054611483 @default.
• W2804082209 hasAuthorship W2804082209A5060965138 @default.
• W2804082209 hasAuthorship W2804082209A5073524560 @default.
• W2804082209 hasAuthorship W2804082209A5074219685 @default.
• W2804082209 hasAuthorship W2804082209A5076453416 @default.
• W2804082209 hasBestOaLocation W28040822092 @default.
• W2804082209 hasConcept C126322002 @default.
• W2804082209 hasConcept C131872663 @default.
• W2804082209 hasConcept C172680121 @default.
• W2804082209 hasConcept C187212893 @default.
• W2804082209 hasConcept C2776352029 @default.
• W2804082209 hasConcept C2779234561 @default.
• W2804082209 hasConcept C2779546488 @default.
• W2804082209 hasConcept C2908647359 @default.
• W2804082209 hasConcept C54355233 @default.
• W2804082209 hasConcept C66322754 @default.
• W2804082209 hasConcept C71924100 @default.
• W2804082209 hasConcept C72563966 @default.
• W2804082209 hasConcept C86803240 @default.
• W2804082209 hasConcept C99454951 @default.
• W2804082209 hasConceptScore W2804082209C126322002 @default.
• W2804082209 hasConceptScore W2804082209C131872663 @default.
• W2804082209 hasConceptScore W2804082209C172680121 @default.
• W2804082209 hasConceptScore W2804082209C187212893 @default.
• W2804082209 hasConceptScore W2804082209C2776352029 @default.
• W2804082209 hasConceptScore W2804082209C2779234561 @default.
• W2804082209 hasConceptScore W2804082209C2779546488 @default.
• W2804082209 hasConceptScore W2804082209C2908647359 @default.
• W2804082209 hasConceptScore W2804082209C54355233 @default.
• W2804082209 hasConceptScore W2804082209C66322754 @default.
• W2804082209 hasConceptScore W2804082209C71924100 @default.
• W2804082209 hasConceptScore W2804082209C72563966 @default.
• W2804082209 hasConceptScore W2804082209C86803240 @default.
• W2804082209 hasConceptScore W2804082209C99454951 @default.
• W2804082209 hasIssue "9" @default.
• W2804082209 hasLocation W28040822091 @default.
• W2804082209 hasLocation W28040822092 @default.
• W2804082209 hasLocation W28040822093 @default.
• W2804082209 hasLocation W28040822094 @default.
• W2804082209 hasLocation W28040822095 @default.

• next