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Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms

Journal of the Royal Society interface, 2017-05, Vol.14 (130), p.20161036

2017

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The molecular genetics of Marfan syndrome and related disorders

Journal of Medical Genetics, 2006-10, Vol.43 (10), p.769-787

2006

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Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

Clinical genetics, 2016-10, Vol.90 (4), p.351-360

2016

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Loss of smooth muscle α-actin effects on mechanosensing and cell–matrix adhesions

Experimental biology and medicine (Maywood, N.J.), 2020-02, Vol.245 (4), p.374-384

2020

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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

Journal of medical genetics, 2009-09, Vol.46 (9), p.607-613

2009

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R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations

American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.664-668

2012

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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

Clinical genetics, 2016-06, Vol.89 (6), p.719-723

2016

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Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease

Trials, 2020-07, Vol.21 (1), p.656-656, Article 656

2020

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

Human molecular genetics, 2007-10, Vol.16 (20), p.2453-2462

2007

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A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Journal of dental research, 2002-02, Vol.81 (2), p.129-133

2002

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Familial thoracic aortic dilatations and dissections: A case control study

Journal of vascular surgery, 1997-03, Vol.25 (3), p.506-511

1997

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FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

Journal of medical genetics, 2004-05, Vol.41 (5), p.e56-e56

2004

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Genetic Susceptibility to Enteroaggregative Escherichia coli Diarrhea: Polymorphism in the Interleukin-8 Promotor Region

The Journal of infectious diseases, 2003-08, Vol.188 (4), p.506-511

2003

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Fibrillin-2 ( FBN2 ) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

Nature genetics, 1995-12, Vol.11 (4), p.456-458

1995

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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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Marfan syndrome : long-term survival and complications after aortic aneurysm repair

Circulation (New York, N.Y.), 1995-02, Vol.91 (3), p.728-733

1995

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Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

Circulation (New York, N.Y.), 1996-12, Vol.94 (11), p.2708-2711

1996

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A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Journal of dental research, 2002-02, Vol.81 (2), p.129-133

2002

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Essential Hypertension vs. Secondary Hypertension Among Children

American journal of hypertension, 2015-01, Vol.28 (1), p.73-80

2015

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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25

Circulation (New York, N.Y.), 2003-07, Vol.107 (25), p.3184-3190

2003

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Genetic disorders of the elastic fiber system

Matrix Biology, 2000-11, Vol.19 (6), p.471-480

2000

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Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study

The Journal of thoracic and cardiovascular surgery, 2014-06, Vol.147 (6), p.1758-1767.e4

2014

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Familial thoracic aortic aneurysms and dissections : Genetic heterogeneity with a major locus mapping to 5q13-14

Circulation (New York, N.Y.), 2001-05, Vol.103 (20), p.2461-2468

2001

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Systemic Sclerosis (Scleroderma): Specific Autoantigen Genes Are Selectively Overexpressed in Scleroderma Fibroblasts

The Journal of immunology (1950), 2001-12, Vol.167 (12), p.7126-7133

2001

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Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

The American journal of cardiology, 1998-08, Vol.82 (4), p.474-479

1998

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Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms

The molecular genetics of Marfan syndrome and related disorders

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

Loss of smooth muscle α-actin effects on mechanosensing and cell–matrix adhesions

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Familial thoracic aortic dilatations and dissections: A case control study

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

Genetic Susceptibility to Enteroaggregative Escherichia coli Diarrhea: Polymorphism in the Interleukin-8 Promotor Region

Fibrillin-2 ( FBN2 ) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

The revised Ghent nosology for the Marfan syndrome

Marfan syndrome : long-term survival and complications after aortic aneurysm repair

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Essential Hypertension vs. Secondary Hypertension Among Children

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25

Genetic disorders of the elastic fiber system

Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study

Familial thoracic aortic aneurysms and dissections : Genetic heterogeneity with a major locus mapping to 5q13-14

Systemic Sclerosis (Scleroderma): Specific Autoantigen Genes Are Selectively Overexpressed in Scleroderma Fibroblasts

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

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