FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051786021> ?p ?o ?g. }

• W2051786021 abstract "Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in MECP2 account for a large proportion of cases with RTT. A limited number of twin pairs with RTT have also been reported in literature.We investigated 13 year old, monozygotic twin females with RTT and some noticeable differences in development using a combinatorial approach of sequencing and Taqman assay. Monozygosity status of the twins was confirmed by informative microsatellite markers.The twins shared a de novo deletion in exon 3 in the MBD domain of MECP2. To the best of our knowledge, this is only the second report of genetic analysis of a monozygotic twin pair." @default.
• W2051786021 created "2016-06-24" @default.
• W2051786021 creator A5011233568 @default.
• W2051786021 creator A5014772258 @default.
• W2051786021 creator A5023716414 @default.
• W2051786021 creator A5035651763 @default.
• W2051786021 date "2011-08-27" @default.
• W2051786021 modified "2023-10-01" @default.
• W2051786021 title "De novo deletion in MECP2 in a monozygotic twin pair: a case report" @default.
• W2051786021 cites W150737276 @default.
• W2051786021 cites W1669590348 @default.
• W2051786021 cites W186604189 @default.
• W2051786021 cites W1966206831 @default.
• W2051786021 cites W1986352415 @default.
• W2051786021 cites W1986936425 @default.
• W2051786021 cites W1987642692 @default.
• W2051786021 cites W1988794993 @default.
• W2051786021 cites W1992940496 @default.
• W2051786021 cites W2004492872 @default.
• W2051786021 cites W2013281074 @default.
• W2051786021 cites W2032223619 @default.
• W2051786021 cites W2035273767 @default.
• W2051786021 cites W2035412136 @default.
• W2051786021 cites W2049128446 @default.
• W2051786021 cites W2052584828 @default.
• W2051786021 cites W2055798908 @default.
• W2051786021 cites W2056983380 @default.
• W2051786021 cites W2059180147 @default.
• W2051786021 cites W2075818685 @default.
• W2051786021 cites W2080963406 @default.
• W2051786021 cites W2093529814 @default.
• W2051786021 cites W2107277218 @default.
• W2051786021 cites W2113595463 @default.
• W2051786021 cites W2117516733 @default.
• W2051786021 cites W2118269074 @default.
• W2051786021 cites W2125603023 @default.
• W2051786021 cites W2132165212 @default.
• W2051786021 cites W2136414304 @default.
• W2051786021 cites W2147588609 @default.
• W2051786021 cites W2267254074 @default.
• W2051786021 cites W4205608485 @default.
• W2051786021 cites W4239393537 @default.
• W2051786021 doi "https://doi.org/10.1186/1471-2350-12-113" @default.
• W2051786021 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3176152" @default.
• W2051786021 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21871116" @default.
• W2051786021 hasPublicationYear "2011" @default.
• W2051786021 type Work @default.
• W2051786021 sameAs 2051786021 @default.
• W2051786021 citedByCount "7" @default.
• W2051786021 countsByYear W20517860212013 @default.
• W2051786021 countsByYear W20517860212016 @default.
• W2051786021 countsByYear W20517860212019 @default.
• W2051786021 crossrefType "journal-article" @default.
• W2051786021 hasAuthorship W2051786021A5011233568 @default.
• W2051786021 hasAuthorship W2051786021A5014772258 @default.
• W2051786021 hasAuthorship W2051786021A5023716414 @default.
• W2051786021 hasAuthorship W2051786021A5035651763 @default.
• W2051786021 hasBestOaLocation W20517860211 @default.
• W2051786021 hasConcept C104317684 @default.
• W2051786021 hasConcept C127716648 @default.
• W2051786021 hasConcept C161890455 @default.
• W2051786021 hasConcept C169594400 @default.
• W2051786021 hasConcept C2777543196 @default.
• W2051786021 hasConcept C2778863441 @default.
• W2051786021 hasConcept C3017743773 @default.
• W2051786021 hasConcept C3020537875 @default.
• W2051786021 hasConcept C36823959 @default.
• W2051786021 hasConcept C47042493 @default.
• W2051786021 hasConcept C54355233 @default.
• W2051786021 hasConcept C86803240 @default.
• W2051786021 hasConceptScore W2051786021C104317684 @default.
• W2051786021 hasConceptScore W2051786021C127716648 @default.
• W2051786021 hasConceptScore W2051786021C161890455 @default.
• W2051786021 hasConceptScore W2051786021C169594400 @default.
• W2051786021 hasConceptScore W2051786021C2777543196 @default.
• W2051786021 hasConceptScore W2051786021C2778863441 @default.
• W2051786021 hasConceptScore W2051786021C3017743773 @default.
• W2051786021 hasConceptScore W2051786021C3020537875 @default.
• W2051786021 hasConceptScore W2051786021C36823959 @default.
• W2051786021 hasConceptScore W2051786021C47042493 @default.
• W2051786021 hasConceptScore W2051786021C54355233 @default.
• W2051786021 hasConceptScore W2051786021C86803240 @default.
• W2051786021 hasIssue "1" @default.
• W2051786021 hasLocation W20517860211 @default.
• W2051786021 hasLocation W20517860212 @default.
• W2051786021 hasLocation W20517860213 @default.
• W2051786021 hasLocation W20517860214 @default.
• W2051786021 hasOpenAccess W2051786021 @default.
• W2051786021 hasPrimaryLocation W20517860211 @default.
• W2051786021 hasRelatedWork W1967673975 @default.
• W2051786021 hasRelatedWork W1983513473 @default.
• W2051786021 hasRelatedWork W1988764617 @default.
• W2051786021 hasRelatedWork W1993501734 @default.
• W2051786021 hasRelatedWork W2051786021 @default.
• W2051786021 hasRelatedWork W2084941669 @default.
• W2051786021 hasRelatedWork W2122557484 @default.
• W2051786021 hasRelatedWork W2173655891 @default.
• W2051786021 hasRelatedWork W2373598157 @default.
• W2051786021 hasRelatedWork W2999071818 @default.
• W2051786021 hasVolume "12" @default.

• next