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Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

Frontiers in physiology, 2017-08, Vol.8, p.612-612

2017

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Fibrillins in Tendon

Frontiers in aging neuroscience, 2016-10, Vol.8, p.237-237

2016

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Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome

Journal of vascular surgery, 2018-07, Vol.68 (1), p.225-233.e5

2018

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DNA Damage in Rheumatoid Arthritis: An Age-Dependent Increase in the Lipid Peroxidation-Derived DNA Adduct, Heptanone-Etheno-2'-Deoxycytidine

Autoimmune Diseases, 2013-01, Vol.2013 (2013), p.11-18

2013

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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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Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

Frontiers in genetics, 2020-12, Vol.11, p.592588-592588

2020

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When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

Internal and emergency medicine, 2021-04, Vol.16 (3), p.609-615

2021

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Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

Diagnostics (Basel), 2022-07, Vol.12 (8), p.1785

2022

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Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Genes, 2021-09, Vol.12 (10), p.1462

2021

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Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach

Diagnostics (Basel), 2021-02, Vol.11 (2), p.220

2021

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Ullrich Scleroatonic Muscular Dystrophy is Caused by Recessive Mutations in Collagen Type VI

Proceedings of the National Academy of Sciences - PNAS, 2001-06, Vol.98 (13), p.7516-7521

2001

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Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome

Kardiologia polska, 2023-01, Vol.81 (11), p.1067-1068

2023

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Thrombophilic risk factors in patients with central retinal vein occlusion

Thrombosis and haemostasis, 2001-09, Vol.86 (3), p.772-726

2001

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Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

The Journal of biological chemistry, 2002-11, Vol.277 (46), p.43557-43564

2002

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Growth hormone ( GH1) gene variation and the growth hormone receptor ( GHR) exon 3 deletion polymorphism in a West-African population

Molecular and cellular endocrinology, 2008-12, Vol.296 (1), p.18-25

2008

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Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Matrix biology, 2001-11, Vol.20 (7), p.475-486

2001

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Elevated tissue factor and tissue factor pathway inhibitor circulating levels in ischaemic heart disease patients

Thrombosis and haemostasis, 1998-03, Vol.79 (3), p.495-499

1998

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The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD)

Thrombosis and haemostasis, 1998-04, Vol.79 (4), p.727-730

1998

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Marfan syndrome: current perspectives

Application of clinical genetics, 2016-01, Vol.9 (Issue 1), p.55-65

2016

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Another piece in the puzzle of bicuspid aortic valve syndrome

European heart journal cardiovascular imaging, 2016-11, Vol.17 (11), p.1248-1249

2016

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Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

BMC medical genetics, 2014-02, Vol.15 (1), p.23-23, Article 23

2014

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Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

BioMed research international, 2018-01, Vol.2018 (2018), p.1-9

2018

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Monitoring of low-molecular-weight heparins in cardiovascular disease

The American journal of cardiology, 1998-09, Vol.82 (5), p.33L-36L

1998

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The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies

Heart failure clinics, 2022-01, Vol.18 (1), p.165-175

2022

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Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

Fibrillins in Tendon

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome

DNA Damage in Rheumatoid Arthritis: An Age-Dependent Increase in the Lipid Peroxidation-Derived DNA Adduct, Heptanone-Etheno-2'-Deoxycytidine

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

Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach

Ullrich Scleroatonic Muscular Dystrophy is Caused by Recessive Mutations in Collagen Type VI

Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome

Thrombophilic risk factors in patients with central retinal vein occlusion

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

Growth hormone ( GH1) gene variation and the growth hormone receptor ( GHR) exon 3 deletion polymorphism in a West-African population

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Elevated tissue factor and tissue factor pathway inhibitor circulating levels in ischaemic heart disease patients

The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD)

Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN

Marfan syndrome: current perspectives

Another piece in the puzzle of bicuspid aortic valve syndrome

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

Monitoring of low-molecular-weight heparins in cardiovascular disease

The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies

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