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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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Is physical activity a future therapy for patients with Marfan syndrome?

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.46-46, Article 46

2022

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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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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1759-1772

2018

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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

American journal of human genetics, 2013-08, Vol.93 (2), p.398-404

2013

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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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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

American journal of human genetics, 2014-12, Vol.95 (6), p.736-743

2014

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Human genetics, 2020-04, Vol.139 (4), p.461-472

2020

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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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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.264-264, Article 264

2019

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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

American journal of human genetics, 2015-01, Vol.96 (1), p.170-177

2015

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Tissue diffusion and retention of metalloproteinases in ascending aortic aneurysms and dissections

Human pathology, 2009-03, Vol.40 (3), p.306-313

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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Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

Genes, 2019-02, Vol.10 (2), p.128

2019

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

European journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1121-1128

2009

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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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Clinical utility gene card for: Loeys-Dietz syndrome ( ) and related phenotypes

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1108-1108

2011

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Familial thoracic aortic aneurysms

Current opinion in cardiology, 2014-11, Vol.29 (6), p.492-498

2014

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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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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

Circulation research, 2016-03, Vol.118 (6), p.928-934

2016

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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

Is physical activity a future therapy for patients with Marfan syndrome?

Marfan syndrome

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

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

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Tissue diffusion and retention of metalloproteinases in ascending aortic aneurysms and dissections

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

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

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

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

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

Clinical utility gene card for: Loeys-Dietz syndrome ( ) and related phenotypes

Familial thoracic aortic aneurysms

Genetics of Thoracic Aortic Aneurysms

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

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

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

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