Circulation Genomic and Precision Medicine · 2018 · 60 citations · 22 references
Life SciencesGeneticsMolecular GeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsAortic DiseaseAortopathy GeneticsGenetic DisordersGenetic RiskGenetic SusceptibilityVariant ClassificationAortic Root DiseaseDominant Negative EffectsDominant Negative MutationsGenotype-based PrognosisInherited AortopathiesLikely Pathogenic Variant InterpretationMarfan Syndrome AortopathyMarfan Syndrome Genetics
BACKGROUND: genotype and severe aortopathy (aortic root replacement, type A dissections, and related death). METHODS: genotype on severe aortic events (aortic root replacement, type A dissections, and related death). RESULTS: <0.001). CONCLUSIONS: DN-CD+HI patients should be monitored more carefully than DN-nonCD patients for rapid development of aortic root aneurysms.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases
Raimund Erbel, Victor Aboyans, Cathérine Boileau et al. · European Heart Journal · 2014 · 4.4K citations · Full text
Medicine, Cardiology, Surgery +14
The revised Ghent nosology for the Marfan syndrome: Table 1
Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text