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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.605-615

2018

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Marfan syndrome

Nature reviews. Disease primers, 2021-09, Vol.7 (1), p.64-64, Article 64

2021

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Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories

The American journal of cardiology, 2014-09, Vol.114 (6), p.914-920

2014

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Guía ESC 2015 sobre el tratamiento de la endocarditis infecciosa

Revista española de cardiologia, 2016, Vol.69 (1), p.69.e1-69.e49

2016

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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

The New England journal of medicine, 2006-08, Vol.355 (8), p.788-798

2006

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Organisation of care for pregnancy in patients with congenital heart disease

Heart (British Cardiac Society), 2017-12, Vol.103 (23), p.1854

2017

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Sex, pregnancy and aortic disease in Marfan syndrome

PloS one, 2017-07, Vol.12 (7), p.e0181166-e0181166

2017

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2020 ESC Guidelines for the management of adult congenital heart disease

Revista española de cardiología (English ed.), 2021-05, Vol.74 (5), p.436-436

2021

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Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Diagnostics (Basel), 2020-09, Vol.10 (10), p.751

2020

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Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

International journal of molecular sciences, 2020-10, Vol.21 (19), p.7024

2020

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Correction: Sex, pregnancy and aortic disease in Marfan syndrome

PloS one, 2018-05, Vol.13 (5), p.e0197631-e0197631

2018

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Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.40-47

2017

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Echocardiographic Methods, Quality Review, and Measurement Accuracy in a Randomized Multicenter Clinical Trial of Marfan Syndrome

Journal of the American Society of Echocardiography, 2013-06, Vol.26 (6), p.657-666

2013

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Genética en la cardiopatía congénita: ¿estamos preparados?

Revista española de cardiologia, 2020-11, Vol.73 (11), p.937-947

2020

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Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

The Lancet (British edition), 2022-09, Vol.400 (10355), p.822-831

2022

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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Arteriosclerosis, thrombosis, and vascular biology, 2013-11, Vol.33 (11), p.2646

2013

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Real-world healthcare utilization in adult congenital heart disease: a systematic review of trends and ratios

Cardiology in the young, 2019-05, Vol.29 (5), p.553-563

2019

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The ESC Clinical Practice Guidelines for the Management of Adult Congenital Heart Disease 2020

European heart journal, 2020-11, Vol.41 (43), p.4153-4154

2020

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Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO

Nature communications, 2021-05, Vol.12 (1), p.2628-2628, Article 2628

2021

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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

The Lancet (British edition), 2010-10, Vol.376 (9751), p.1476-1484

2010

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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Genetics in medicine, 2021-01, Vol.23 (1), p.94-102

2021

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Propagation-based phase-contrast synchrotron imaging of aortic dissection in mice: from individual elastic lamella to 3D analysis

Scientific reports, 2018-02, Vol.8 (1), p.2223-11, Article 2223

2018

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Nature genetics, 2005-03, Vol.37 (3), p.275-281

2005

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The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective

Clinical chemistry, 2021-01, Vol.67 (1), p.33-40

2021

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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Marfan syndrome

Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories

Guía ESC 2015 sobre el tratamiento de la endocarditis infecciosa

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Organisation of care for pregnancy in patients with congenital heart disease

Sex, pregnancy and aortic disease in Marfan syndrome

2020 ESC Guidelines for the management of adult congenital heart disease

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

Correction: Sex, pregnancy and aortic disease in Marfan syndrome

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Echocardiographic Methods, Quality Review, and Measurement Accuracy in a Randomized Multicenter Clinical Trial of Marfan Syndrome

Genética en la cardiopatía congénita: ¿estamos preparados?

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Real-world healthcare utilization in adult congenital heart disease: a systematic review of trends and ratios

The ESC Clinical Practice Guidelines for the Management of Adult Congenital Heart Disease 2020

Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Propagation-based phase-contrast synchrotron imaging of aortic dissection in mice: from individual elastic lamella to 3D analysis

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective

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