FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2751253085> ?p ?o ?g. }

• W2751253085 abstract "We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing.Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations. These mutations included one missense and three micro-insertion mutations. Overall, 0.7% (3/418) of patients who had RTT in our cohort had FOXG1 mutations. All patients had early global developmental delays followed later by severe mental retardation. None of the patients acquired speech or purposeful hand movements, and all of them presented with severe hypotonia, epilepsy, and hypoplasia of the corpus callosum.Our findings extend the spectrum of FOXG1 mutations and the clinical features of RTT in Chinese patients. We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations." @default.
• W2751253085 created "2017-09-15" @default.
• W2751253085 creator A5022243401 @default.
• W2751253085 creator A5032344292 @default.
• W2751253085 creator A5035503949 @default.
• W2751253085 creator A5039631380 @default.
• W2751253085 creator A5046259530 @default.
• W2751253085 creator A5060021711 @default.
• W2751253085 creator A5072878810 @default.
• W2751253085 creator A5082213642 @default.
• W2751253085 date "2017-08-29" @default.
• W2751253085 modified "2023-09-23" @default.
• W2751253085 title "Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation" @default.
• W2751253085 cites W1527575954 @default.
• W2751253085 cites W186604189 @default.
• W2751253085 cites W1870442904 @default.
• W2751253085 cites W1914590533 @default.
• W2751253085 cites W1984615341 @default.
• W2751253085 cites W1984855310 @default.
• W2751253085 cites W1986467256 @default.
• W2751253085 cites W2014190391 @default.
• W2751253085 cites W2018771491 @default.
• W2751253085 cites W2021186319 @default.
• W2751253085 cites W2022776643 @default.
• W2751253085 cites W2032561635 @default.
• W2751253085 cites W2065858825 @default.
• W2751253085 cites W2068117073 @default.
• W2751253085 cites W2071899720 @default.
• W2751253085 cites W2072506631 @default.
• W2751253085 cites W2078460439 @default.
• W2751253085 cites W2096845976 @default.
• W2751253085 cites W2107029583 @default.
• W2751253085 cites W2135126450 @default.
• W2751253085 cites W2145083672 @default.
• W2751253085 cites W2151674741 @default.
• W2751253085 cites W2154057943 @default.
• W2751253085 cites W2159483963 @default.
• W2751253085 cites W2468375296 @default.
• W2751253085 cites W4234093436 @default.
• W2751253085 doi "https://doi.org/10.1186/s12881-017-0455-y" @default.
• W2751253085 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5575846" @default.
• W2751253085 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28851325" @default.
• W2751253085 hasPublicationYear "2017" @default.
• W2751253085 type Work @default.
• W2751253085 sameAs 2751253085 @default.
• W2751253085 citedByCount "8" @default.
• W2751253085 countsByYear W27512530852019 @default.
• W2751253085 countsByYear W27512530852020 @default.
• W2751253085 countsByYear W27512530852022 @default.
• W2751253085 crossrefType "journal-article" @default.
• W2751253085 hasAuthorship W2751253085A5022243401 @default.
• W2751253085 hasAuthorship W2751253085A5032344292 @default.
• W2751253085 hasAuthorship W2751253085A5035503949 @default.
• W2751253085 hasAuthorship W2751253085A5039631380 @default.
• W2751253085 hasAuthorship W2751253085A5046259530 @default.
• W2751253085 hasAuthorship W2751253085A5060021711 @default.
• W2751253085 hasAuthorship W2751253085A5072878810 @default.
• W2751253085 hasAuthorship W2751253085A5082213642 @default.
• W2751253085 hasBestOaLocation W27512530851 @default.
• W2751253085 hasConcept C104317684 @default.
• W2751253085 hasConcept C126322002 @default.
• W2751253085 hasConcept C127716648 @default.
• W2751253085 hasConcept C169760540 @default.
• W2751253085 hasConcept C187212893 @default.
• W2751253085 hasConcept C2776395126 @default.
• W2751253085 hasConcept C2777543196 @default.
• W2751253085 hasConcept C2778183499 @default.
• W2751253085 hasConcept C2778186239 @default.
• W2751253085 hasConcept C2778863441 @default.
• W2751253085 hasConcept C2779546488 @default.
• W2751253085 hasConcept C2780327212 @default.
• W2751253085 hasConcept C2780787877 @default.
• W2751253085 hasConcept C2994225774 @default.
• W2751253085 hasConcept C47042493 @default.
• W2751253085 hasConcept C501734568 @default.
• W2751253085 hasConcept C54355233 @default.
• W2751253085 hasConcept C71924100 @default.
• W2751253085 hasConcept C75563809 @default.
• W2751253085 hasConcept C76818968 @default.
• W2751253085 hasConcept C86803240 @default.
• W2751253085 hasConceptScore W2751253085C104317684 @default.
• W2751253085 hasConceptScore W2751253085C126322002 @default.
• W2751253085 hasConceptScore W2751253085C127716648 @default.
• W2751253085 hasConceptScore W2751253085C169760540 @default.
• W2751253085 hasConceptScore W2751253085C187212893 @default.
• W2751253085 hasConceptScore W2751253085C2776395126 @default.
• W2751253085 hasConceptScore W2751253085C2777543196 @default.
• W2751253085 hasConceptScore W2751253085C2778183499 @default.
• W2751253085 hasConceptScore W2751253085C2778186239 @default.
• W2751253085 hasConceptScore W2751253085C2778863441 @default.
• W2751253085 hasConceptScore W2751253085C2779546488 @default.
• W2751253085 hasConceptScore W2751253085C2780327212 @default.
• W2751253085 hasConceptScore W2751253085C2780787877 @default.
• W2751253085 hasConceptScore W2751253085C2994225774 @default.
• W2751253085 hasConceptScore W2751253085C47042493 @default.
• W2751253085 hasConceptScore W2751253085C501734568 @default.
• W2751253085 hasConceptScore W2751253085C54355233 @default.
• W2751253085 hasConceptScore W2751253085C71924100 @default.
• W2751253085 hasConceptScore W2751253085C75563809 @default.
• W2751253085 hasConceptScore W2751253085C76818968 @default.

• next