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Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Genetics in medicine, 2021-07, Vol.23 (7), p.1296-1304

2021

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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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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

Genetics in medicine, 2021-05, Vol.23 (5), p.865-871

2021

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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

The Journal of clinical investigation, 2016-03, Vol.126 (3), p.948-961

2016

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eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.164-164, Article 164

2021

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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Genetics in medicine, 2019-01, Vol.21 (1), p.144-151

2019

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Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway

The Journal of pathology, 2009-05, Vol.218 (1), p.131-142

2009

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Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Genetics in medicine, 2014-03, Vol.16 (3), p.246-250

2014

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Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

Journal of clinical medicine, 2023-04, Vol.12 (8), p.2902

2023

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Publisher Correction: Marfan syndrome

Nature reviews. Disease primers, 2022-01, Vol.8 (1), p.3-3, Article 3

2022

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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

European journal of endocrinology, 2012-10, Vol.167 (4), p.517

2012

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Beta-Blockers in Acute Heart Failure

JACC. Heart failure, 2015-08, Vol.3 (8), p.654-656

2015

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Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Molecular genetics & genomic medicine, 2020-05, Vol.8 (5), p.e1132-n/a

2020

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Marfan's syndrome with anterior sacral pseudomeningocele

Oxford Medical Case Reports, 2022-12, Vol.2022 (12), p.omac139

2022

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Genetics of Thoracic Aortic Aneurysms

Current atherosclerosis reports, 2012-06, Vol.14 (3), p.219-226

2012

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Pregnancy outcomes in women with cardiovascular disease: evolving trends over 10 years in the ESC Registry Of Pregnancy And Cardiac disease (ROPAC)

European heart journal, 2019-12, Vol.40 (47), p.3848-3855

2019

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Hyperventilation as one of the mechanisms of persistent dyspnoea in SARS-CoV-2 survivors

The European respiratory journal, 2021-08, Vol.58 (2), p.2101578

2021

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Aortic dilatation patterns and rates in adults with bicuspid aortic valves: a comparative study with Marfan syndrome and degenerative aortopathy

Heart (British Cardiac Society), 2014-01, Vol.100 (2), p.126-134

2014

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The revised Ghent nosology for the Marfan syndrome

Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485

2010

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Beta-Blockers in Acute Heart Failure: Do They Cause Harm?

JACC. Heart failure, 2015-08, Vol.3 (8), p.654-656

2015

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Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study

Intractable & Rare Diseases Research, 2021/11/30, Vol.10(4), pp.263-268

2021

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Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

European journal of preventive cardiology, 2020-09, Vol.27 (13), p.1423-1435

2020

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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Journal of medical genetics, 2024-05, Vol.61 (5), p.469

2024

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Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Marfan syndrome

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway

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

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

Publisher Correction: Marfan syndrome

Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Beta-Blockers in Acute Heart Failure

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Marfan's syndrome with anterior sacral pseudomeningocele

Genetics of Thoracic Aortic Aneurysms

Pregnancy outcomes in women with cardiovascular disease: evolving trends over 10 years in the ESC Registry Of Pregnancy And Cardiac disease (ROPAC)

Hyperventilation as one of the mechanisms of persistent dyspnoea in SARS-CoV-2 survivors

Aortic dilatation patterns and rates in adults with bicuspid aortic valves: a comparative study with Marfan syndrome and degenerative aortopathy

The revised Ghent nosology for the Marfan syndrome

Beta-Blockers in Acute Heart Failure: Do They Cause Harm?

Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

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