FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2761032334> ?p ?o ?g. }

• W2761032334 abstract "Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing. By cytogenetic (conventional karyotyping), molecular cytogenetic (QF-PCR, FISH, array), and methylation (MS-MLPA) analyses of amniotic fluid, we detected mosaicism for one cell line with genome-wide maternal uniparental disomy and a second diploid cell line of biparental inheritance with trisomy X due to paternal isodisomy X. As expected for this constellation, we observed DNA methylation changes at all imprinted loci investigated. This report adds new information on phenotypic outcome of mosaic genome-wide maternal uniparental disomy leading to an extreme form of multilocus imprinting disturbance. Moreover, the findings highlight the technical challenges of detecting these rare chromosome disorders prenatally." @default.
• W2761032334 created "2017-10-20" @default.
• W2761032334 creator A5008479564 @default.
• W2761032334 creator A5030831053 @default.
• W2761032334 creator A5031841292 @default.
• W2761032334 creator A5042060185 @default.
• W2761032334 creator A5047395920 @default.
• W2761032334 creator A5059795103 @default.
• W2761032334 creator A5062924066 @default.
• W2761032334 creator A5066545233 @default.
• W2761032334 creator A5087675041 @default.
• W2761032334 date "2017-10-13" @default.
• W2761032334 modified "2023-10-12" @default.
• W2761032334 title "Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge" @default.
• W2761032334 cites W1588409425 @default.
• W2761032334 cites W1951348986 @default.
• W2761032334 cites W1971265111 @default.
• W2761032334 cites W1978386737 @default.
• W2761032334 cites W1988992319 @default.
• W2761032334 cites W1999753659 @default.
• W2761032334 cites W2001031298 @default.
• W2761032334 cites W2003790621 @default.
• W2761032334 cites W2007214149 @default.
• W2761032334 cites W2008220795 @default.
• W2761032334 cites W2021903084 @default.
• W2761032334 cites W2022408230 @default.
• W2761032334 cites W2032770898 @default.
• W2761032334 cites W2039107093 @default.
• W2761032334 cites W2040210345 @default.
• W2761032334 cites W2043388138 @default.
• W2761032334 cites W2060967135 @default.
• W2761032334 cites W2093840358 @default.
• W2761032334 cites W2126058835 @default.
• W2761032334 cites W2129882885 @default.
• W2761032334 cites W2129908510 @default.
• W2761032334 cites W2135284044 @default.
• W2761032334 cites W2166618513 @default.
• W2761032334 cites W2168643015 @default.
• W2761032334 cites W2168688956 @default.
• W2761032334 cites W2264601402 @default.
• W2761032334 cites W2293736598 @default.
• W2761032334 cites W2464134108 @default.
• W2761032334 cites W2519713895 @default.
• W2761032334 cites W49845552 @default.
• W2761032334 doi "https://doi.org/10.1186/s13148-017-0410-y" @default.
• W2761032334 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5640928" @default.
• W2761032334 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29046733" @default.
• W2761032334 hasPublicationYear "2017" @default.
• W2761032334 type Work @default.
• W2761032334 sameAs 2761032334 @default.
• W2761032334 citedByCount "7" @default.
• W2761032334 countsByYear W27610323342019 @default.
• W2761032334 countsByYear W27610323342020 @default.
• W2761032334 countsByYear W27610323342021 @default.
• W2761032334 countsByYear W27610323342022 @default.
• W2761032334 crossrefType "journal-article" @default.
• W2761032334 hasAuthorship W2761032334A5008479564 @default.
• W2761032334 hasAuthorship W2761032334A5030831053 @default.
• W2761032334 hasAuthorship W2761032334A5031841292 @default.
• W2761032334 hasAuthorship W2761032334A5042060185 @default.
• W2761032334 hasAuthorship W2761032334A5047395920 @default.
• W2761032334 hasAuthorship W2761032334A5059795103 @default.
• W2761032334 hasAuthorship W2761032334A5062924066 @default.
• W2761032334 hasAuthorship W2761032334A5066545233 @default.
• W2761032334 hasAuthorship W2761032334A5087675041 @default.
• W2761032334 hasBestOaLocation W27610323341 @default.
• W2761032334 hasConcept C104317684 @default.
• W2761032334 hasConcept C150194340 @default.
• W2761032334 hasConcept C190727270 @default.
• W2761032334 hasConcept C201492766 @default.
• W2761032334 hasConcept C2780332060 @default.
• W2761032334 hasConcept C30481170 @default.
• W2761032334 hasConcept C53226629 @default.
• W2761032334 hasConcept C54355233 @default.
• W2761032334 hasConcept C86803240 @default.
• W2761032334 hasConcept C94715292 @default.
• W2761032334 hasConceptScore W2761032334C104317684 @default.
• W2761032334 hasConceptScore W2761032334C150194340 @default.
• W2761032334 hasConceptScore W2761032334C190727270 @default.
• W2761032334 hasConceptScore W2761032334C201492766 @default.
• W2761032334 hasConceptScore W2761032334C2780332060 @default.
• W2761032334 hasConceptScore W2761032334C30481170 @default.
• W2761032334 hasConceptScore W2761032334C53226629 @default.
• W2761032334 hasConceptScore W2761032334C54355233 @default.
• W2761032334 hasConceptScore W2761032334C86803240 @default.
• W2761032334 hasConceptScore W2761032334C94715292 @default.
• W2761032334 hasIssue "1" @default.
• W2761032334 hasLocation W27610323341 @default.
• W2761032334 hasLocation W27610323342 @default.
• W2761032334 hasLocation W27610323343 @default.
• W2761032334 hasLocation W27610323344 @default.
• W2761032334 hasOpenAccess W2761032334 @default.
• W2761032334 hasPrimaryLocation W27610323341 @default.
• W2761032334 hasRelatedWork W1970095805 @default.
• W2761032334 hasRelatedWork W1970202965 @default.
• W2761032334 hasRelatedWork W1993669390 @default.
• W2761032334 hasRelatedWork W1993821286 @default.
• W2761032334 hasRelatedWork W2038524035 @default.
• W2761032334 hasRelatedWork W2124125804 @default.
• W2761032334 hasRelatedWork W2154032366 @default.

• next