Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308984947> ?p ?o ?g. }
- W4308984947 endingPage "521" @default.
- W4308984947 startingPage "513" @default.
- W4308984947 abstract "Paternal uniparental disomy of chromosome 11 (upd(11)pat) accounts for up to 20% of molecularly confirmed Beckwith-Wiedemann spectrum (BWSp) cases. It belongs to the BWSp subgroup with the second highest tumor risk, and therefore needs particular awareness in research, diagnostics and clinical management.We overview the contribution of paternal (mosaic) uniparental disomy of chromosome 11 (UPD, upd(11)pat) and mosaic paternal uniparental diploidy in patients with Beckwith-Wiedemann features. The review comprises the current knowledge on their formation and their molecular and clinical consequences. Accordingly, the consequences for diagnostic testing and clinical monitoring are compiled.The necessity to diagnostically identify and thus discriminate genome-wide paternal uniparental disomy, and upd(11)pat becomes obvious, due to the differences in the clinical course, disease prognosis, and treatment. In particular, monitoring of tumor development by liquid biopsy might be a promising option in the future. From the research point of view, it should be addressed why 11p is prone to mitotic recombination and thus also provide to the role of upd(11) as second hit in tumorigenesis." @default.
- W4308984947 created "2022-11-20" @default.
- W4308984947 creator A5022079984 @default.
- W4308984947 creator A5068981055 @default.
- W4308984947 date "2022-11-02" @default.
- W4308984947 modified "2023-09-23" @default.
- W4308984947 title "Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome" @default.
- W4308984947 cites W1719142286 @default.
- W4308984947 cites W1873856147 @default.
- W4308984947 cites W1951348986 @default.
- W4308984947 cites W1951457834 @default.
- W4308984947 cites W1995227479 @default.
- W4308984947 cites W1996429555 @default.
- W4308984947 cites W2005133979 @default.
- W4308984947 cites W2007539432 @default.
- W4308984947 cites W2013550946 @default.
- W4308984947 cites W2021903084 @default.
- W4308984947 cites W2042644193 @default.
- W4308984947 cites W2057200496 @default.
- W4308984947 cites W2057390527 @default.
- W4308984947 cites W2090978506 @default.
- W4308984947 cites W2096622788 @default.
- W4308984947 cites W2103504468 @default.
- W4308984947 cites W2114070392 @default.
- W4308984947 cites W2123021448 @default.
- W4308984947 cites W2125326894 @default.
- W4308984947 cites W2126215730 @default.
- W4308984947 cites W2129882885 @default.
- W4308984947 cites W2144824933 @default.
- W4308984947 cites W2164384217 @default.
- W4308984947 cites W2207311753 @default.
- W4308984947 cites W2263491684 @default.
- W4308984947 cites W2290583093 @default.
- W4308984947 cites W2290940702 @default.
- W4308984947 cites W2291591520 @default.
- W4308984947 cites W2299789497 @default.
- W4308984947 cites W2351755272 @default.
- W4308984947 cites W2464376411 @default.
- W4308984947 cites W2772830348 @default.
- W4308984947 cites W2786780539 @default.
- W4308984947 cites W2795012013 @default.
- W4308984947 cites W2908571759 @default.
- W4308984947 cites W2921752460 @default.
- W4308984947 cites W2946968670 @default.
- W4308984947 cites W2964491719 @default.
- W4308984947 cites W2997872294 @default.
- W4308984947 cites W3023667452 @default.
- W4308984947 cites W3041383466 @default.
- W4308984947 cites W3080536258 @default.
- W4308984947 cites W3082774009 @default.
- W4308984947 cites W3102908420 @default.
- W4308984947 cites W3126834436 @default.
- W4308984947 cites W3204728066 @default.
- W4308984947 cites W3214213778 @default.
- W4308984947 cites W4213283422 @default.
- W4308984947 cites W4220662758 @default.
- W4308984947 doi "https://doi.org/10.1080/17446651.2022.2144228" @default.
- W4308984947 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36377076" @default.
- W4308984947 hasPublicationYear "2022" @default.
- W4308984947 type Work @default.
- W4308984947 citedByCount "2" @default.
- W4308984947 countsByYear W43089849472023 @default.
- W4308984947 crossrefType "journal-article" @default.
- W4308984947 hasAuthorship W4308984947A5022079984 @default.
- W4308984947 hasAuthorship W4308984947A5068981055 @default.
- W4308984947 hasConcept C104317684 @default.
- W4308984947 hasConcept C127764415 @default.
- W4308984947 hasConcept C150194340 @default.
- W4308984947 hasConcept C190727270 @default.
- W4308984947 hasConcept C2777575177 @default.
- W4308984947 hasConcept C2780332060 @default.
- W4308984947 hasConcept C30481170 @default.
- W4308984947 hasConcept C501734568 @default.
- W4308984947 hasConcept C53226629 @default.
- W4308984947 hasConcept C54355233 @default.
- W4308984947 hasConcept C71924100 @default.
- W4308984947 hasConcept C86803240 @default.
- W4308984947 hasConceptScore W4308984947C104317684 @default.
- W4308984947 hasConceptScore W4308984947C127764415 @default.
- W4308984947 hasConceptScore W4308984947C150194340 @default.
- W4308984947 hasConceptScore W4308984947C190727270 @default.
- W4308984947 hasConceptScore W4308984947C2777575177 @default.
- W4308984947 hasConceptScore W4308984947C2780332060 @default.
- W4308984947 hasConceptScore W4308984947C30481170 @default.
- W4308984947 hasConceptScore W4308984947C501734568 @default.
- W4308984947 hasConceptScore W4308984947C53226629 @default.
- W4308984947 hasConceptScore W4308984947C54355233 @default.
- W4308984947 hasConceptScore W4308984947C71924100 @default.
- W4308984947 hasConceptScore W4308984947C86803240 @default.
- W4308984947 hasIssue "6" @default.
- W4308984947 hasLocation W43089849471 @default.
- W4308984947 hasLocation W43089849472 @default.
- W4308984947 hasOpenAccess W4308984947 @default.
- W4308984947 hasPrimaryLocation W43089849471 @default.
- W4308984947 hasRelatedWork W2022365795 @default.
- W4308984947 hasRelatedWork W2031436818 @default.
- W4308984947 hasRelatedWork W2061165512 @default.
- W4308984947 hasRelatedWork W2067181161 @default.