2019
Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants
Gu S, Shevell L, Tormey C, Rinder H, Lee A. Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants. American Journal Of Clinical Pathology 2019, 152: s35-s35. DOI: 10.1093/ajcp/aqz112.066.Peer-Reviewed Original ResearchWhole-exome sequencingMultiple sequence alignment analysisVenous thromboembolismGenetic variantsSequence alignment analysisDisease-causing genetic variantsVon Willebrand factorRegions of proteinsNovel genetic variantsNext-generation sequencing studiesAmino acid substitutionsGenetic factorsNovel VUSAlignment analysisMajority of VTESequencing studiesAcid substitutionsSilico mutagenesisConformational changesEvaluation of thrombophiliaDeep venous thrombosisNonsynonymous variantsProthrombin gene mutationFactor V LeidenEnzymatic activity
2016
Thrombophilia and Pregnancy
Hendrix P, Tinelli A, Malvasi A, Paidas M. Thrombophilia and Pregnancy. 2016, 287-313. DOI: 10.1007/978-3-319-31377-1_13.Peer-Reviewed Original ResearchAdverse pregnancy outcomesPregnancy outcomesHereditary thrombophiliaBest practice clinical guidelinesContinuum of pregnancyVenous thromboembolic eventsRecurrent fetal lossIntrauterine growth restrictionProthrombin gene mutationNatural anticoagulant protein SFactor V LeidenEfficacy of preventionFetal morbidityThromboembolic eventsAntiphospholipid syndromeMaternal riskPuerperal periodClinical guidelinesFetal lossGrowth restrictionTreatment paradigmV LeidenRisk associationThrombophiliaPregnancy
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