about
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthoodPerspectives on the revised Ghent criteria for the diagnosis of Marfan syndromeA syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Aneurysm syndromes caused by mutations in the TGF-beta receptorThe revised Ghent nosology for the Marfan syndromeComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureHeart failure in pregnant women with cardiac disease: data from the ROPAC.Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysmsMitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapyEffect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.Circulating transforming growth factor-beta in Marfan syndrome.Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.Atenolol versus losartan in children and young adults with Marfan's syndrome.Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' CollaboratNovel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.Genetics of left ventricular outflow tract abnormalities.Echocardiographic methods, quality review, and measurement accuracy in a randomized multicenter clinical trial of Marfan syndrome.Predictive model for late atrial arrhythmia after closure of an atrial septal defect.Managing aortic aneurysms and dissections during pregnancy.Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.The 2017 international classification of the Ehlers-Danlos syndromes.FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).The spectrum of spontaneous coronary artery dissection: illustrated review of the literature.Organisation of care for pregnancy in patients with congenital heart disease.Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.Sex, pregnancy and aortic disease in Marfan syndrome.2015 ESC Guidelines for the management of infective endocarditis: The Task Force for the Management of Infective Endocarditis of the European Society of Cardiology (ESC). Endorsed by: European Association for Cardio-Thoracic Surgery (EACTS), the EurGenes in thoracic aortic aneurysms/dissections - do they matter?Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.A different view on predictors of pulmonary hypertension in secundum atrial septal defect.Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined?Treatment of pre-existing cardiomyopathy during pregnancy.The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.Cardiovascular manifestations in men and women carrying a FBN1 mutation.
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description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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type
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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Julie De Backer
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P1053
B-2897-2014
P106
P21
P31
P3829
P496
0000-0001-8878-1507