FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2118725728> ?p ?o ?g. }

• W2118725728 endingPage "13" @default.
• W2118725728 startingPage "7" @default.
• W2118725728 abstract "The aim of this study was to establish the profile of major congenital malformations in the United Arab Emirates (UAE) population which has a high rate of consanguinity. All births with birth weight above 500 g in the three hospitals in the Al Ain Medical District of UAE were prospectively studied from January 1992 to January 1994. About 98% of the births in the district occur in these three hospitals. Detailed family history and clinical and relevant laboratory investigations were recorded in each case. Necropsy was not permitted. The major malformations were classified as multiple or isolated single system abnormalities as well as genetic or non-genetic disorders. Of the 16,419 births which occurred during the two year period, 173 (10.5/1000 births) had major malformations, 90 (52%) had multiple malformations, and 83 (47.97%) had involvement of a single system. Of the infants with multiple malformations, 43 had recognised syndromes, most of which are autosomal recessive disorders with a high frequency of rare syndromes. Twenty eight (31%) had chromosomal abnormalities. The most common systems involved in infants with isolated single system malformations include gastrointestinal (33), central nervous system (17), and cardiovascular (10). While the consanguinity rate was similar (57% v 54%), the frequency of first cousin marriages was much higher (51% v 30%) in the study group compared with the figures for the general population. The consanguinity rate was highest among the syndrome cases, and related parents were more likely to have infants with multiple malformations than an isolated single system abnormality with a relative risk of 1.69 (95% CL 1.27-2.24). Genetic factors could be implicated in 116 (67%) of the 173 cases of major malformations and 49 (28%) were potentially preventable. The study suggests that genetic disorders account for a significant proportion of congenital malformation in the UAE and, thus, a genetic service should be provided as part of the preventive cae programme." @default.
• W2118725728 created "2016-06-24" @default.
• W2118725728 creator A5018357139 @default.
• W2118725728 creator A5034647731 @default.
• W2118725728 creator A5037050087 @default.
• W2118725728 creator A5086536192 @default.
• W2118725728 date "1995-01-01" @default.
• W2118725728 modified "2023-10-14" @default.
• W2118725728 title "The profile of major congenital abnormalities in the United Arab Emirates (UAE) population." @default.
• W2118725728 cites W137688048 @default.
• W2118725728 cites W1964827920 @default.
• W2118725728 cites W1969346471 @default.
• W2118725728 cites W1970895828 @default.
• W2118725728 cites W1971259313 @default.
• W2118725728 cites W1972215111 @default.
• W2118725728 cites W1973745643 @default.
• W2118725728 cites W1981487964 @default.
• W2118725728 cites W1988276998 @default.
• W2118725728 cites W1991447837 @default.
• W2118725728 cites W1996140474 @default.
• W2118725728 cites W1998652859 @default.
• W2118725728 cites W2010296202 @default.
• W2118725728 cites W2020312071 @default.
• W2118725728 cites W2032689879 @default.
• W2118725728 cites W2038178719 @default.
• W2118725728 cites W2040628588 @default.
• W2118725728 cites W2042327309 @default.
• W2118725728 cites W2048142579 @default.
• W2118725728 cites W2068836467 @default.
• W2118725728 cites W2074430637 @default.
• W2118725728 cites W2085417978 @default.
• W2118725728 cites W2126445148 @default.
• W2118725728 cites W2138610845 @default.
• W2118725728 cites W2144495980 @default.
• W2118725728 cites W2150983882 @default.
• W2118725728 cites W235505524 @default.
• W2118725728 cites W2401121492 @default.
• W2118725728 cites W2414800412 @default.
• W2118725728 cites W2417425743 @default.
• W2118725728 doi "https://doi.org/10.1136/jmg.32.1.7" @default.
• W2118725728 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1050171" @default.
• W2118725728 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7897633" @default.
• W2118725728 hasPublicationYear "1995" @default.
• W2118725728 type Work @default.
• W2118725728 sameAs 2118725728 @default.
• W2118725728 citedByCount "99" @default.
• W2118725728 countsByYear W21187257282012 @default.
• W2118725728 countsByYear W21187257282013 @default.
• W2118725728 countsByYear W21187257282014 @default.
• W2118725728 countsByYear W21187257282015 @default.
• W2118725728 countsByYear W21187257282016 @default.
• W2118725728 countsByYear W21187257282017 @default.
• W2118725728 countsByYear W21187257282018 @default.
• W2118725728 countsByYear W21187257282019 @default.
• W2118725728 countsByYear W21187257282020 @default.
• W2118725728 countsByYear W21187257282021 @default.
• W2118725728 countsByYear W21187257282022 @default.
• W2118725728 countsByYear W21187257282023 @default.
• W2118725728 crossrefType "journal-article" @default.
• W2118725728 hasAuthorship W2118725728A5018357139 @default.
• W2118725728 hasAuthorship W2118725728A5034647731 @default.
• W2118725728 hasAuthorship W2118725728A5037050087 @default.
• W2118725728 hasAuthorship W2118725728A5086536192 @default.
• W2118725728 hasBestOaLocation W21187257281 @default.
• W2118725728 hasConcept C118552586 @default.
• W2118725728 hasConcept C131872663 @default.
• W2118725728 hasConcept C187212893 @default.
• W2118725728 hasConcept C2779234561 @default.
• W2118725728 hasConcept C2779923321 @default.
• W2118725728 hasConcept C2908647359 @default.
• W2118725728 hasConcept C3019607859 @default.
• W2118725728 hasConcept C50965678 @default.
• W2118725728 hasConcept C54355233 @default.
• W2118725728 hasConcept C71924100 @default.
• W2118725728 hasConcept C86803240 @default.
• W2118725728 hasConcept C99454951 @default.
• W2118725728 hasConceptScore W2118725728C118552586 @default.
• W2118725728 hasConceptScore W2118725728C131872663 @default.
• W2118725728 hasConceptScore W2118725728C187212893 @default.
• W2118725728 hasConceptScore W2118725728C2779234561 @default.
• W2118725728 hasConceptScore W2118725728C2779923321 @default.
• W2118725728 hasConceptScore W2118725728C2908647359 @default.
• W2118725728 hasConceptScore W2118725728C3019607859 @default.
• W2118725728 hasConceptScore W2118725728C50965678 @default.
• W2118725728 hasConceptScore W2118725728C54355233 @default.
• W2118725728 hasConceptScore W2118725728C71924100 @default.
• W2118725728 hasConceptScore W2118725728C86803240 @default.
• W2118725728 hasConceptScore W2118725728C99454951 @default.
• W2118725728 hasIssue "1" @default.
• W2118725728 hasLocation W21187257281 @default.
• W2118725728 hasLocation W21187257282 @default.
• W2118725728 hasLocation W21187257283 @default.
• W2118725728 hasLocation W21187257284 @default.
• W2118725728 hasOpenAccess W2118725728 @default.
• W2118725728 hasPrimaryLocation W21187257281 @default.
• W2118725728 hasRelatedWork W1576709320 @default.
• W2118725728 hasRelatedWork W1903300228 @default.
• W2118725728 hasRelatedWork W1980630704 @default.

• next