FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2644197970> ?p ?o ?g. }

• W2644197970 endingPage "1364" @default.
• W2644197970 startingPage "1360" @default.
• W2644197970 abstract "We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep next-generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample. The mutation was detectable in all tissues tested, at levels ranging from 7% to 10% (mutation present in ∼20% of diploid somatic cells and 7% of haploid sperm), demonstrating the involvement of both somatic and gonadal lineages in this patient. This report illustrates the clinical utility of performing targeted NGS analysis on sperm from males with a mosaic condition in order to provide personalized transmission risk and offer evidence-based counseling on reproductive safety." @default.
• W2644197970 created "2017-06-30" @default.
• W2644197970 creator A5014320231 @default.
• W2644197970 creator A5022062950 @default.
• W2644197970 creator A5032288019 @default.
• W2644197970 creator A5033871706 @default.
• W2644197970 creator A5038365863 @default.
• W2644197970 creator A5040438544 @default.
• W2644197970 creator A5062972896 @default.
• W2644197970 creator A5065672403 @default.
• W2644197970 creator A5090206205 @default.
• W2644197970 date "2017-07-06" @default.
• W2644197970 modified "2023-09-27" @default.
• W2644197970 title "Quantification of transmission risk in a male patient with a <i>FLNB</i> mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases" @default.
• W2644197970 cites W1967401569 @default.
• W2644197970 cites W1968163514 @default.
• W2644197970 cites W1980276855 @default.
• W2644197970 cites W1997857542 @default.
• W2644197970 cites W2006078771 @default.
• W2644197970 cites W2022102389 @default.
• W2644197970 cites W2030409202 @default.
• W2644197970 cites W2048305004 @default.
• W2644197970 cites W2052537479 @default.
• W2644197970 cites W2072441913 @default.
• W2644197970 cites W2116669221 @default.
• W2644197970 cites W2137232121 @default.
• W2644197970 cites W2167269585 @default.
• W2644197970 cites W2201808132 @default.
• W2644197970 cites W2332588133 @default.
• W2644197970 cites W2408220728 @default.
• W2644197970 cites W2422815010 @default.
• W2644197970 cites W2515459299 @default.
• W2644197970 cites W2644197970 @default.
• W2644197970 doi "https://doi.org/10.1002/humu.23281" @default.
• W2644197970 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5638069" @default.
• W2644197970 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28639312" @default.
• W2644197970 hasPublicationYear "2017" @default.
• W2644197970 type Work @default.
• W2644197970 sameAs 2644197970 @default.
• W2644197970 citedByCount "14" @default.
• W2644197970 countsByYear W26441979702017 @default.
• W2644197970 countsByYear W26441979702018 @default.
• W2644197970 countsByYear W26441979702019 @default.
• W2644197970 countsByYear W26441979702020 @default.
• W2644197970 countsByYear W26441979702021 @default.
• W2644197970 countsByYear W26441979702022 @default.
• W2644197970 countsByYear W26441979702023 @default.
• W2644197970 crossrefType "journal-article" @default.
• W2644197970 hasAuthorship W2644197970A5014320231 @default.
• W2644197970 hasAuthorship W2644197970A5022062950 @default.
• W2644197970 hasAuthorship W2644197970A5032288019 @default.
• W2644197970 hasAuthorship W2644197970A5033871706 @default.
• W2644197970 hasAuthorship W2644197970A5038365863 @default.
• W2644197970 hasAuthorship W2644197970A5040438544 @default.
• W2644197970 hasAuthorship W2644197970A5062972896 @default.
• W2644197970 hasAuthorship W2644197970A5065672403 @default.
• W2644197970 hasAuthorship W2644197970A5090206205 @default.
• W2644197970 hasBestOaLocation W26441979701 @default.
• W2644197970 hasConcept C104317684 @default.
• W2644197970 hasConcept C134305767 @default.
• W2644197970 hasConcept C13514818 @default.
• W2644197970 hasConcept C167871757 @default.
• W2644197970 hasConcept C48720390 @default.
• W2644197970 hasConcept C501734568 @default.
• W2644197970 hasConcept C54355233 @default.
• W2644197970 hasConcept C80227256 @default.
• W2644197970 hasConcept C86803240 @default.
• W2644197970 hasConceptScore W2644197970C104317684 @default.
• W2644197970 hasConceptScore W2644197970C134305767 @default.
• W2644197970 hasConceptScore W2644197970C13514818 @default.
• W2644197970 hasConceptScore W2644197970C167871757 @default.
• W2644197970 hasConceptScore W2644197970C48720390 @default.
• W2644197970 hasConceptScore W2644197970C501734568 @default.
• W2644197970 hasConceptScore W2644197970C54355233 @default.
• W2644197970 hasConceptScore W2644197970C80227256 @default.
• W2644197970 hasConceptScore W2644197970C86803240 @default.
• W2644197970 hasFunder F4320311904 @default.
• W2644197970 hasIssue "10" @default.
• W2644197970 hasLocation W26441979701 @default.
• W2644197970 hasLocation W26441979702 @default.
• W2644197970 hasLocation W26441979703 @default.
• W2644197970 hasLocation W26441979704 @default.
• W2644197970 hasLocation W26441979705 @default.
• W2644197970 hasLocation W26441979706 @default.
• W2644197970 hasOpenAccess W2644197970 @default.
• W2644197970 hasPrimaryLocation W26441979701 @default.
• W2644197970 hasRelatedWork W1489089338 @default.
• W2644197970 hasRelatedWork W1969127094 @default.
• W2644197970 hasRelatedWork W2000861910 @default.
• W2644197970 hasRelatedWork W2071881731 @default.
• W2644197970 hasRelatedWork W2091236339 @default.
• W2644197970 hasRelatedWork W2167620444 @default.
• W2644197970 hasRelatedWork W2324939495 @default.
• W2644197970 hasRelatedWork W2613868166 @default.
• W2644197970 hasRelatedWork W2913740063 @default.
• W2644197970 hasRelatedWork W302755784 @default.
• W2644197970 hasVolume "38" @default.
• W2644197970 isParatext "false" @default.

• next