FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2777392019> ?p ?o ?g. }

• W2777392019 endingPage "411" @default.
• W2777392019 startingPage "403" @default.
• W2777392019 abstract "Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population. MRI abnormalities common to PKS include cerebral volume loss, malformations of cortical development, corpus callosum dysgenesis, white matter disease, and craniofacial malformations. In our patient, new findings of perisylvian with occipital polymicrogyria, vermian dysplasia, brachium pontis signal abnormality, dural anomalies, and unilateral atlas assimilation were noted. Micrencephaly and cortical dysplasia provide a likely explanation for severe intellectual disability and epilepsy in this patient population." @default.
• W2777392019 created "2018-01-05" @default.
• W2777392019 creator A5027234117 @default.
• W2777392019 creator A5044910271 @default.
• W2777392019 creator A5059078645 @default.
• W2777392019 date "2017-12-20" @default.
• W2777392019 modified "2023-09-27" @default.
• W2777392019 title "Neuroimaging findings in Pallister-Killian syndrome" @default.
• W2777392019 cites W1959433595 @default.
• W2777392019 cites W1964363700 @default.
• W2777392019 cites W1975785112 @default.
• W2777392019 cites W1977018103 @default.
• W2777392019 cites W1978644953 @default.
• W2777392019 cites W1980269981 @default.
• W2777392019 cites W1987983333 @default.
• W2777392019 cites W1988042066 @default.
• W2777392019 cites W1988132992 @default.
• W2777392019 cites W1991818058 @default.
• W2777392019 cites W1994777593 @default.
• W2777392019 cites W1995554595 @default.
• W2777392019 cites W2022889105 @default.
• W2777392019 cites W2025496185 @default.
• W2777392019 cites W2048135097 @default.
• W2777392019 cites W2049344686 @default.
• W2777392019 cites W2058270659 @default.
• W2777392019 cites W2074903812 @default.
• W2777392019 cites W2077568742 @default.
• W2777392019 cites W2083453924 @default.
• W2777392019 cites W2089130861 @default.
• W2777392019 cites W2093561063 @default.
• W2777392019 cites W2093963116 @default.
• W2777392019 cites W2095796618 @default.
• W2777392019 cites W2097657722 @default.
• W2777392019 cites W2114511660 @default.
• W2777392019 cites W2126032617 @default.
• W2777392019 cites W2127483346 @default.
• W2777392019 cites W2145946218 @default.
• W2777392019 cites W2156147078 @default.
• W2777392019 cites W2159947879 @default.
• W2777392019 cites W2226316723 @default.
• W2777392019 cites W2346467757 @default.
• W2777392019 cites W2399236861 @default.
• W2777392019 cites W2489783019 @default.
• W2777392019 cites W2604778699 @default.
• W2777392019 cites W2737026966 @default.
• W2777392019 doi "https://doi.org/10.1177/1971400917744798" @default.
• W2777392019 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6111437" @default.
• W2777392019 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29260614" @default.
• W2777392019 hasPublicationYear "2017" @default.
• W2777392019 type Work @default.
• W2777392019 sameAs 2777392019 @default.
• W2777392019 citedByCount "7" @default.
• W2777392019 countsByYear W27773920192019 @default.
• W2777392019 countsByYear W27773920192020 @default.
• W2777392019 countsByYear W27773920192021 @default.
• W2777392019 countsByYear W27773920192022 @default.
• W2777392019 crossrefType "journal-article" @default.
• W2777392019 hasAuthorship W2777392019A5027234117 @default.
• W2777392019 hasAuthorship W2777392019A5044910271 @default.
• W2777392019 hasAuthorship W2777392019A5059078645 @default.
• W2777392019 hasBestOaLocation W27773920191 @default.
• W2777392019 hasConcept C104317684 @default.
• W2777392019 hasConcept C105702510 @default.
• W2777392019 hasConcept C118552586 @default.
• W2777392019 hasConcept C126838900 @default.
• W2777392019 hasConcept C142724271 @default.
• W2777392019 hasConcept C143409427 @default.
• W2777392019 hasConcept C2778183499 @default.
• W2777392019 hasConcept C2778186239 @default.
• W2777392019 hasConcept C2778596996 @default.
• W2777392019 hasConcept C2778951934 @default.
• W2777392019 hasConcept C2780698589 @default.
• W2777392019 hasConcept C2781152150 @default.
• W2777392019 hasConcept C2781192897 @default.
• W2777392019 hasConcept C2781245598 @default.
• W2777392019 hasConcept C2908647359 @default.
• W2777392019 hasConcept C54355233 @default.
• W2777392019 hasConcept C551499885 @default.
• W2777392019 hasConcept C58693492 @default.
• W2777392019 hasConcept C71924100 @default.
• W2777392019 hasConcept C86803240 @default.
• W2777392019 hasConcept C99454951 @default.
• W2777392019 hasConceptScore W2777392019C104317684 @default.
• W2777392019 hasConceptScore W2777392019C105702510 @default.
• W2777392019 hasConceptScore W2777392019C118552586 @default.
• W2777392019 hasConceptScore W2777392019C126838900 @default.
• W2777392019 hasConceptScore W2777392019C142724271 @default.
• W2777392019 hasConceptScore W2777392019C143409427 @default.
• W2777392019 hasConceptScore W2777392019C2778183499 @default.
• W2777392019 hasConceptScore W2777392019C2778186239 @default.
• W2777392019 hasConceptScore W2777392019C2778596996 @default.
• W2777392019 hasConceptScore W2777392019C2778951934 @default.
• W2777392019 hasConceptScore W2777392019C2780698589 @default.
• W2777392019 hasConceptScore W2777392019C2781152150 @default.
• W2777392019 hasConceptScore W2777392019C2781192897 @default.
• W2777392019 hasConceptScore W2777392019C2781245598 @default.
• W2777392019 hasConceptScore W2777392019C2908647359 @default.
• W2777392019 hasConceptScore W2777392019C54355233 @default.

• next