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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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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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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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The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

Human molecular genetics, 2015-05, Vol.24 (10), p.2764-2770

2015

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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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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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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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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

Genes, 2020-05, Vol.11 (5), p.574

2020

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Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.e1-150

2016

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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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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Genes, 2018-08, Vol.9 (9), p.421

2018

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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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Marfan Syndrome: Always Evolving

Circulation. Cardiovascular genetics, 2017-06, Vol.10 (3)

2017

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The VASCERN European Reference Network: An overview

European journal of medical genetics, 2022-03, Vol.65 (3), p.104420-104420, Article 104420

2022

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Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

Circulation. Cardiovascular genetics, 2015-06, Vol.8 (3), p.457

2015

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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?

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

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

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

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

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

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

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

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

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

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

Marfan Syndrome: Always Evolving

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

The VASCERN European Reference Network: An overview

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

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