List of works - Aline Verstraeten

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

scientific article published in February 2018

Aetiology and management of hereditary aortopathy

scientific article published on 19 January 2017

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

scientific article published in January 2013

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

scientific article published on 23 January 2019

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

scientific article published on 12 June 2018

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

scientific article

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

scientific article

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

scientific article published on 22 February 2019

Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

scientific article

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

scientific article published on 28 February 2019

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

scientific article published on 25 September 2017

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

scientific article published on 26 November 2011

Excessive eosinophilia as paraneoplastic syndrome in a patient with non-small-cell lung carcinoma: a case report and review of the literature

scientific article published on July 1, 2011

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

scientific article published on 08 August 2018

Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

scientific article published on 30 September 2015

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of H

scientific article published on 11 June 2019

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

scientific article published on 28 May 2018

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

scientific article published on 9 October 2017

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

scientific article published on 15 September 2016

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

scientific article published on 26 February 2016

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

scientific article published on 7 July 2016

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

scientific article published on 02 July 2018

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

scientific article published on 10 June 2018

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

scientific article published on 19 November 2018

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention

scientific article published on 15 November 2018

TGF-β signalopathies as a paradigm for translational medicine.

scientific article

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

scientific article published on 12 April 2017

List of works by Aline Verstraeten

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

Aetiology and management of hereditary aortopathy

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Excessive eosinophilia as paraneoplastic syndrome in a patient with non-small-cell lung carcinoma: a case report and review of the literature

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of H

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

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

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention

TGF-β signalopathies as a paradigm for translational medicine.

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.