Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013339303> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2013339303 endingPage "285" @default.
- W2013339303 startingPage "285" @default.
- W2013339303 abstract "• Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in females. The pathognomonic chorioretinal lesions were noted on ophthalmologic examination of a 22-month-old girl, observed for 19 months with severe myoclonic seizures and profound mental retardation. Computerized tomography confirmed major malformation of the brain. Roentgenograms showed anterior fusion of two thoracic vertebrae. Electroretinography was normal, but visual evoked responses were abnormal. Only 72 children are known to have this syndrome; no affected siblings have been reported. The absolute sex limitation—all cases have been female—suggests that the disorder is produced by a mutation on one of the X chromosomes, and is nonviable in male conceptuses. These genetic considerations dramatically influence counseling of parents regarding likelihood of occurrence of the syndrome in subsequent offspring." @default.
- W2013339303 created "2016-06-24" @default.
- W2013339303 creator A5036422156 @default.
- W2013339303 creator A5066390071 @default.
- W2013339303 creator A5075581519 @default.
- W2013339303 date "1978-02-01" @default.
- W2013339303 modified "2023-10-18" @default.
- W2013339303 title "Aicardi's Syndrome" @default.
- W2013339303 cites W1559801635 @default.
- W2013339303 cites W1993096350 @default.
- W2013339303 cites W2036863915 @default.
- W2013339303 cites W2057412343 @default.
- W2013339303 cites W2171500913 @default.
- W2013339303 cites W2400338050 @default.
- W2013339303 cites W2410736767 @default.
- W2013339303 cites W2465444980 @default.
- W2013339303 cites W2796928994 @default.
- W2013339303 doi "https://doi.org/10.1001/archopht.1978.03910050153010" @default.
- W2013339303 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/415707" @default.
- W2013339303 hasPublicationYear "1978" @default.
- W2013339303 type Work @default.
- W2013339303 sameAs 2013339303 @default.
- W2013339303 citedByCount "23" @default.
- W2013339303 crossrefType "journal-article" @default.
- W2013339303 hasAuthorship W2013339303A5036422156 @default.
- W2013339303 hasAuthorship W2013339303A5066390071 @default.
- W2013339303 hasAuthorship W2013339303A5075581519 @default.
- W2013339303 hasConcept C112672928 @default.
- W2013339303 hasConcept C118487528 @default.
- W2013339303 hasConcept C134018914 @default.
- W2013339303 hasConcept C142724271 @default.
- W2013339303 hasConcept C187212893 @default.
- W2013339303 hasConcept C2776391266 @default.
- W2013339303 hasConcept C2776407475 @default.
- W2013339303 hasConcept C2778313320 @default.
- W2013339303 hasConcept C2779113765 @default.
- W2013339303 hasConcept C2779134260 @default.
- W2013339303 hasConcept C2779234561 @default.
- W2013339303 hasConcept C2780827179 @default.
- W2013339303 hasConcept C54355233 @default.
- W2013339303 hasConcept C555293320 @default.
- W2013339303 hasConcept C71924100 @default.
- W2013339303 hasConcept C86803240 @default.
- W2013339303 hasConceptScore W2013339303C112672928 @default.
- W2013339303 hasConceptScore W2013339303C118487528 @default.
- W2013339303 hasConceptScore W2013339303C134018914 @default.
- W2013339303 hasConceptScore W2013339303C142724271 @default.
- W2013339303 hasConceptScore W2013339303C187212893 @default.
- W2013339303 hasConceptScore W2013339303C2776391266 @default.
- W2013339303 hasConceptScore W2013339303C2776407475 @default.
- W2013339303 hasConceptScore W2013339303C2778313320 @default.
- W2013339303 hasConceptScore W2013339303C2779113765 @default.
- W2013339303 hasConceptScore W2013339303C2779134260 @default.
- W2013339303 hasConceptScore W2013339303C2779234561 @default.
- W2013339303 hasConceptScore W2013339303C2780827179 @default.
- W2013339303 hasConceptScore W2013339303C54355233 @default.
- W2013339303 hasConceptScore W2013339303C555293320 @default.
- W2013339303 hasConceptScore W2013339303C71924100 @default.
- W2013339303 hasConceptScore W2013339303C86803240 @default.
- W2013339303 hasIssue "2" @default.
- W2013339303 hasLocation W20133393031 @default.
- W2013339303 hasLocation W20133393032 @default.
- W2013339303 hasOpenAccess W2013339303 @default.
- W2013339303 hasPrimaryLocation W20133393031 @default.
- W2013339303 hasRelatedWork W2017629171 @default.
- W2013339303 hasRelatedWork W2032070523 @default.
- W2013339303 hasRelatedWork W2053503839 @default.
- W2013339303 hasRelatedWork W2058083259 @default.
- W2013339303 hasRelatedWork W2092613746 @default.
- W2013339303 hasRelatedWork W2093147840 @default.
- W2013339303 hasRelatedWork W2167686421 @default.
- W2013339303 hasRelatedWork W2441611457 @default.
- W2013339303 hasRelatedWork W2759786982 @default.
- W2013339303 hasRelatedWork W47848033 @default.
- W2013339303 hasVolume "96" @default.
- W2013339303 isParatext "false" @default.
- W2013339303 isRetracted "false" @default.
- W2013339303 magId "2013339303" @default.
- W2013339303 workType "article" @default.