Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016725697> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2016725697 endingPage "CMPed.S18121" @default.
- W2016725697 startingPage "CMPed.S18121" @default.
- W2016725697 abstract "Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8–11.9 Mb at 11q24.1q25 (case 1) and 13.9–14 Mb deletion at 11q23.3q25 together with 7.3–7.6 Mb duplication at 12q24.32q24.33 (case 2). Dysmorphism because of the partial duplication of 12q was not overtly decipherable over the Jacobsen phenotype except for a triangular facial profile. Aberrant chromosome 11 was inherited from phenotypically normal father, carrier of balanced translocation 46,XY,t(11;12)(q23.3; q24.32). In the present study, both cases had phenotypes that were milder than the ones described in literature despite having large deletion size. Most prominent features in classical JBS is thrombocytopenia, which was absent in both these cases. Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation." @default.
- W2016725697 created "2016-06-24" @default.
- W2016725697 creator A5005522975 @default.
- W2016725697 creator A5026168744 @default.
- W2016725697 creator A5028182364 @default.
- W2016725697 creator A5046372009 @default.
- W2016725697 creator A5050520185 @default.
- W2016725697 creator A5067863333 @default.
- W2016725697 creator A5085205979 @default.
- W2016725697 date "2014-01-01" @default.
- W2016725697 modified "2023-10-16" @default.
- W2016725697 title "Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality" @default.
- W2016725697 cites W1509680984 @default.
- W2016725697 cites W1968374512 @default.
- W2016725697 cites W1978978873 @default.
- W2016725697 cites W1981352611 @default.
- W2016725697 cites W1985795219 @default.
- W2016725697 cites W2002247698 @default.
- W2016725697 cites W2007563097 @default.
- W2016725697 cites W2013983432 @default.
- W2016725697 cites W2043527493 @default.
- W2016725697 cites W2051866114 @default.
- W2016725697 cites W2054231603 @default.
- W2016725697 cites W2126206178 @default.
- W2016725697 cites W2128199216 @default.
- W2016725697 cites W2143518811 @default.
- W2016725697 cites W2171988834 @default.
- W2016725697 doi "https://doi.org/10.4137/cmped.s18121" @default.
- W2016725697 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4179602" @default.
- W2016725697 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25288895" @default.
- W2016725697 hasPublicationYear "2014" @default.
- W2016725697 type Work @default.
- W2016725697 sameAs 2016725697 @default.
- W2016725697 citedByCount "4" @default.
- W2016725697 countsByYear W20167256972015 @default.
- W2016725697 countsByYear W20167256972016 @default.
- W2016725697 countsByYear W20167256972021 @default.
- W2016725697 crossrefType "journal-article" @default.
- W2016725697 hasAuthorship W2016725697A5005522975 @default.
- W2016725697 hasAuthorship W2016725697A5026168744 @default.
- W2016725697 hasAuthorship W2016725697A5028182364 @default.
- W2016725697 hasAuthorship W2016725697A5046372009 @default.
- W2016725697 hasAuthorship W2016725697A5050520185 @default.
- W2016725697 hasAuthorship W2016725697A5067863333 @default.
- W2016725697 hasAuthorship W2016725697A5085205979 @default.
- W2016725697 hasBestOaLocation W20167256971 @default.
- W2016725697 hasConcept C104317684 @default.
- W2016725697 hasConcept C124942203 @default.
- W2016725697 hasConcept C127716648 @default.
- W2016725697 hasConcept C138626823 @default.
- W2016725697 hasConcept C153911025 @default.
- W2016725697 hasConcept C206936463 @default.
- W2016725697 hasConcept C2908755955 @default.
- W2016725697 hasConcept C30481170 @default.
- W2016725697 hasConcept C53226629 @default.
- W2016725697 hasConcept C54355233 @default.
- W2016725697 hasConcept C7602840 @default.
- W2016725697 hasConcept C86803240 @default.
- W2016725697 hasConceptScore W2016725697C104317684 @default.
- W2016725697 hasConceptScore W2016725697C124942203 @default.
- W2016725697 hasConceptScore W2016725697C127716648 @default.
- W2016725697 hasConceptScore W2016725697C138626823 @default.
- W2016725697 hasConceptScore W2016725697C153911025 @default.
- W2016725697 hasConceptScore W2016725697C206936463 @default.
- W2016725697 hasConceptScore W2016725697C2908755955 @default.
- W2016725697 hasConceptScore W2016725697C30481170 @default.
- W2016725697 hasConceptScore W2016725697C53226629 @default.
- W2016725697 hasConceptScore W2016725697C54355233 @default.
- W2016725697 hasConceptScore W2016725697C7602840 @default.
- W2016725697 hasConceptScore W2016725697C86803240 @default.
- W2016725697 hasLocation W20167256971 @default.
- W2016725697 hasLocation W20167256972 @default.
- W2016725697 hasLocation W20167256973 @default.
- W2016725697 hasLocation W20167256974 @default.
- W2016725697 hasOpenAccess W2016725697 @default.
- W2016725697 hasPrimaryLocation W20167256971 @default.
- W2016725697 hasRelatedWork W1964213382 @default.
- W2016725697 hasRelatedWork W2006802769 @default.
- W2016725697 hasRelatedWork W2016471266 @default.
- W2016725697 hasRelatedWork W2047750426 @default.
- W2016725697 hasRelatedWork W2054040680 @default.
- W2016725697 hasRelatedWork W2076007163 @default.
- W2016725697 hasRelatedWork W2081906057 @default.
- W2016725697 hasRelatedWork W2085750076 @default.
- W2016725697 hasRelatedWork W2110033346 @default.
- W2016725697 hasRelatedWork W3024821140 @default.
- W2016725697 hasVolume "8" @default.
- W2016725697 isParatext "false" @default.
- W2016725697 isRetracted "false" @default.
- W2016725697 magId "2016725697" @default.
- W2016725697 workType "article" @default.