A. Verstraeten

发表

Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery

G. Mortier, Steven Woods, B. Loeys, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Aetiology and management of hereditary aortopathy

B. Loeys, A. Verstraeten, I. Luyckx, 2017, Nature Reviews Cardiology.

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

J. Timmermans, M. Kempers, D. Micha, 2018, Journal of Medical Genetics.

Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies

B. Loeys, M. Perik, A. Verstraeten, 2020 .

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

S. Bowdin, B. Loeys, A. Laberge, 2016, The Canadian journal of cardiology.

TGF-β signalopathies as a paradigm for translational medicine.

B. Loeys, L. Van Laer, A. Verstraeten, 2015, European journal of medical genetics.

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 Human Genetics

A. Evangelista, G. Jondeau, P. Gallego, 2019, European journal of preventive cardiology.

The Role of Genetics in Risk Stratification of Thoracic Aortic Aneurysm Dissection

B. Loeys, J. Meester, A. Verstraeten, 2020, Hearts.

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

B. Loeys, Pauline De Kinderen, J. Meester, 2022, Human mutation.

Meester-Loeys Syndrome.

B. Loeys, Pauline De Kinderen, J. Meester, 2021, Advances in experimental medicine and biology.

Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection.

G. Mortier, B. Loeys, J. Meester, 2020, Trends in molecular medicine.

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

B. Loeys, M. Alaerts, L. Van Laer, 2017, Annals of cardiothoracic surgery.

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

W. Wuyts, J. Hendriks, B. Loeys, 2017, Clinical Genetics.

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

G. Mortier, H. Dietz, W. Wuyts, 2016, Genetics in Medicine.

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

P. Deyn, C. Broeckhoven, S. Engelborghs, 2016, Neuroscience Letters.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

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

P. Deyn, C. Broeckhoven, S. Engelborghs, 2012, Neurobiology of Aging.

Progress in aorta and peripheral cardiovascular disease research

V. Aboyans, L. Mazzolai, H. Sillesen, 2021, Cardiovascular research.

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

N. Samani, T. Webb, M. Kempers, 2021, International journal of molecular sciences.

The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.

B. Loeys, J. Meester, Silke Peeters, 2022, Annual review of genomics and human genetics.

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

B. Suys, A. Corveleyn, B. Loeys, 2018, European Journal of Medical Genetics.

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

G. Mortier, H. Morisaki, B. Loeys, 2019, Bone.

Training/Practice Contemporary Issues in Cardiology Practice Genetic Testing in Thoracic Aortic DiseasedWhen, Why,

S. Bowdin, B. Loeys, A. Laberge, 2016 .

Contemporary Issues in Cardiology Practice Genetic Testing in Thoracic Aortic Disease d When , Why , and How ?

S. Bowdin, B. Loeys, A. Laberge, 2022 .

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.

J. Timmermans, M. Groenink, A. Evangelista, 2022, European journal of medical genetics.

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

M. Macek, B. Loeys, A. Van Berendoncks, 2022, Human mutation.

Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

B. Bergmans, C. van Broeckhoven, S. Engelborghs, 2020, Acta Neuropathologica.

A dynamic mucin mRNA signature associates with COVID-19 disease presentation and severity

T. Breugelmans, P. Jorens, B. Loeys, 2021, JCI insight.

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

B. Loeys, M. Alaerts, L. Van Laer, 2018, Clinical genetics.

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

P. Eriksson, H. Dietz, E. Messas, 2019, European Journal of Human Genetics.

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

Bart Loeys, Lut Van Laer, G. Mortier, 2018, American journal of human genetics.

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

Emmanuel Messas, Luc Mertens, Dmytro Zerbino, 2017, Front. Physiol..

SMAD6-deficiency in human genetic disorders

M. Goumans, B. Loeys, A. Verstraeten, 2022, npj Genomic Medicine.

Bicuspid Aortic Valve

J. Roos‐Hesselink, B. Loeys, A. Verstraeten, 2020, Clinical Cardiogenetics.

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

B. Loeys, M. Alaerts, A. Verstraeten, 2016, Human mutation.

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

B. Loeys, S. Temel, L. Van Laer, 2019, Connective tissue research.

ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm

Russell A. Gould, Christopher L. Bennett, J. Lupski, 2018, Nature Genetics.

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

K. Devriendt, M. Kempers, M. Baldewijns, 2021, Molecular genetics & genomic medicine.

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

D. Roden, H. Dietz, B. Gelb, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

Hide and seek: Somatic SMAD3 mutations in melorheostosis

B. Loeys, A. Verstraeten, J. D. Velchev, 2020, The Journal of experimental medicine.

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

C. van Broeckhoven, J. Theuns, A. Verstraeten, 2015, Trends in genetics : TIG.

Molecular insights into bicuspid aortic valve development and the associated aortopathy

B. Loeys, N. Bolar, A. Verstraeten, 2017 .

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

P. Deyn, C. Broeckhoven, S. Engelborghs, 2012, Neurobiology of Aging.

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

D. Maraganore, A. Deutschländer, A. Lang, 2014, Neurology.

Extracellular Matrix in Vascular Disease, Part 2/4: JACC Focus Seminar.

M. Mayr, J. Kovacic, B. Loeys, 2020, Journal of the American College of Cardiology.

Clinical Aspects of Heritable Connective Tissue Disorders

B. Loeys, A. Verstraeten, 2019, Surgical Management of Aortic Pathology.

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

Sylvie Slaets, K. Sleegers, C. van Broeckhoven, 2013, Journal of Alzheimer's disease : JAD.

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

A. Hoischen, J. Timmermans, H. Dietz, 2019, European Journal of Human Genetics.

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

K. Girisha, A. Shukla, B. Loeys, 2018, BMC Medical Genetics.

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

N. Samani, L. Mazzolai, A. Maas, 2020, Circulation.

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

B. Loeys, P. Vermeersch, D. Schoors, 2019, JACC. Cardiovascular interventions.

The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection

B. Loeys, A. Verstraeten, Ivanna Fedoryshchenko, 2023, European heart journal.

Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.

D. Sprinzak, S. Blacklow, P. Eriksson, 2023, JAMA cardiology.

Genetics of Marfan Syndrome and Loeys-Dietz Syndrome

B. Loeys, A. Verstraeten, 2019, Surgical Management of Aortic Pathology.

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

B. Loeys, H. Hove, B. Diness, 2019, European Journal of Medical Genetics.

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

G. Mortier, B. Loeys, P. Ponsaerts, 2023, Stem Cell Research.

Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient.

B. Loeys, P. Ponsaerts, M. Alaerts, 2022, Stem cell research.

Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool

P. Jorens, J. Hendriks, B. Loeys, 2019, Front. Med..

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

E. Govaerts, B. Loeys, I. Rodrigus, 2023, Frontiers in genetics.

Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.

B. Loeys, L. Van Laer, J. Meester, 2023, Stem cell research.

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

B. Suys, A. Corveleyn, B. Loeys, 2018, European journal of medical genetics.

LOEYS–DIETZ SYNDROME

H. Dietz, B. Loeys, A. Verstraeten, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

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

B. Loeys, Silke Peeters, A. Verstraeten, 2023, Stem cell research.

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

P. Eriksson, H. Dietz, E. Messas, 2019, European Journal of Human Genetics.

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

A. Hoischen, J. Timmermans, H. Dietz, 2019, European Journal of Human Genetics.

Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome

J. Meester, Silke Peeters, A. Verstraeten, 2024, International journal of molecular sciences.