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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.605-615

2018

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Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?

Drug discovery today, 2015-02, Vol.20 (2), p.262-266

Loeys, Bart L.

2015

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Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Annals of cardiothoracic surgery, 2017-11, Vol.6 (6), p.582-594

2017

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Structural genomic variants in thoracic aortic disease

Current opinion in cardiology, 2023-05, Vol.38 (3), p.157

2023

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

American journal of human genetics, 2016-07, Vol.99 (1), p.174-187

2016

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Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Science (American Association for the Advancement of Science), 2006-04, Vol.312 (5770), p.117-121

2006

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Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant

Stem cell research, 2023-04, Vol.68, p.103050-103050, Article 103050

2023

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Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Human mutation, 2015-08, Vol.36 (8), p.808-814

2015

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iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives

International journal of molecular sciences, 2021-03, Vol.22 (6), p.2825

2021

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Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations

1, 2016

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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

The New England journal of medicine, 2006-08, Vol.355 (8), p.788-798

2006

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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Genetics in medicine, 2017-04, Vol.19 (4), p.386-395

2017

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Nature genetics, 2005-03, Vol.37 (3), p.275-281

2005

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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

American journal of human genetics, 2015-11, Vol.97 (5), p.761-768

2015

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

American journal of human genetics, 2012-02, Vol.90 (2), p.356-362

2012

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A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation

Stem cell research, 2023-03, Vol.67, p.103032-103032, Article 103032

2023

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Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7111

2021

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Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Frontiers in genetics, 2023-08, Vol.14, p.1251675-1251675

2023

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Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

The Annals of thoracic surgery, 2007-02, Vol.83 (2), p.S757-S763

2007

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Genetics of Thoracic Aortic Aneurysm: At the Crossroad of Transforming Growth Factor-β Signaling and Vascular Smooth Muscle Cell Contractility

Circulation research, 2013-07, Vol.113 (3), p.327-340

2013

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Arterial Tortuosity: Novel Implications for an Old Phenotype

Hypertension (Dallas, Tex. 1979), 2019-05, Vol.73 (5), p.951-960

2019

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Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1028-1035

2013

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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Structural genomic variants in thoracic aortic disease

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives

Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Genetics of Thoracic Aortic Aneurysm: At the Crossroad of Transforming Growth Factor-β Signaling and Vascular Smooth Muscle Cell Contractility

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Arterial Tortuosity: Novel Implications for an Old Phenotype

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

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