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TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

Cardiovascular research, 2010-12, Vol.88 (3), p.520-529

2010

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Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2125-2130

2011

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Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.283-302

2008

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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Journal of human genetics, 2008-12, Vol.53 (11-12), p.1007-1011

2008

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Familial thoracic aortic aneurysms and dissections: Three families with early‐onset ascending and descending aortic dissections in women

American journal of medical genetics. Part A, 2006-06, Vol.140A (11), p.1196-1202

2006

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Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms

Annals of the New York Academy of Sciences, 2006-11, Vol.1085 (1), p.242-255

2006

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Genetic basis of thoracic aortic aneurysms and aortic dissections

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-11, Vol.139C (1), p.10-16

2005

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Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection

Circulation. Cardiovascular genetics, 2011-02, Vol.4 (1), p.36-42

2011

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Genetic Basis of Thoracic Aortic Aneurysms and Dissections

Annals of the New York Academy of Sciences, 2006-11, Vol.1085 (1), p.242-255

2006

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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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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2007-12, Vol.39 (12), p.1488-1493

2007

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Mutations in smooth muscle [alpha]-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2007-12, Vol.39 (12), p.1488-1493

2007

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Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections

Circulation (New York, N.Y.), 2005-07, Vol.112 (4), p.513-520

2005

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Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Nature clinical practice cardiovascular medicine, 2007-03, Vol.4 (3), p.167-171

2007

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Dysregulation of Alternative Splicing of Coagulation Factor V Results in Bleeding Disorder, East Texas Type

Blood, 2006-11, Vol.108 (11), p.180-180

2006

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Abstract 2681: Mutations in Smooth Muscle-Specific Contractile Proteins Cause Familial Thoracic Aortic Aneurysms and Dissections and Lead to Increased IGF-1 Expression

Circulation (New York, N.Y.), 2007-10, Vol.116 (suppl_16)

2007

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Abstract 4275: TGFBR2 Mutations Reduce Expression of Contractile Proteins in Aortic Smooth Muscle Cells and Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

Circulation (New York, N.Y.), 2008-10, Vol.118 (suppl_18)

2008

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Paucity of skeletal manifestations in hispanic families with FBN1 mutations

European journal of medical genetics, 2010-03, Vol.53 (2), p.80-84

2010

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Genetic basis of thoracic aortic aneurysms and aortic dissections: Connective tissue disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2005, Vol.139 (1), p.10-16

2005

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II

Human molecular genetics, 2008-01, Vol.17 (1), p.158-158

2008

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Corrigendum: Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2008-02, Vol.40 (2), p.255-255

2008

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Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2008-02, Vol.40 (2), p.255-255

2008

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Corrigendum: Mutations in smooth muscle [alpha]-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2008-02, Vol.40 (2), p.255

2008

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Correction: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2008, Vol.40 (2), p.255-255

2008

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TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Familial thoracic aortic aneurysms and dissections: Three families with early‐onset ascending and descending aortic dissections in women

Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms

Genetic basis of thoracic aortic aneurysms and aortic dissections

Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection

Genetic Basis of Thoracic Aortic Aneurysms and Dissections

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

Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Mutations in smooth muscle [alpha]-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Dysregulation of Alternative Splicing of Coagulation Factor V Results in Bleeding Disorder, East Texas Type

Abstract 2681: Mutations in Smooth Muscle-Specific Contractile Proteins Cause Familial Thoracic Aortic Aneurysms and Dissections and Lead to Increased IGF-1 Expression

Abstract 4275: TGFBR2 Mutations Reduce Expression of Contractile Proteins in Aortic Smooth Muscle Cells and Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

Paucity of skeletal manifestations in hispanic families with FBN1 mutations

Genetic basis of thoracic aortic aneurysms and aortic dissections: Connective tissue disorders

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II

Corrigendum: Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Corrigendum: Mutations in smooth muscle [alpha]-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Correction: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

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