M. Renard

发表

Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in mice

G. Berx, F. Speleman, J. Vandesompele, 2018, Scientific reports.

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline

A. De Paepe, W. Steyaert, B. Callewaert, 2018, Circulation. Genomic and precision medicine.

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

A. De Paepe, B. Callewaert, P. Coucke, 2015, Orphanet Journal of Rare Diseases.

The Loeys–Dietz syndrome: an update for the clinician

B. Loeys, M. Renard, Christine Van Hemelrijk, 2010, Current opinion in cardiology.

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

A. De Paepe, B. Callewaert, P. Coucke, 2013, Polskie Archiwum Medycyny Wewnetrznej.

Genes in Thoracic Aortic Aneurysms and Dissections – Do they Matter?

A. De Paepe, B. Callewaert, P. Coucke, 2013, AORTA.

SmgGDS, a new piece in the thoracic aortic aneurysm and dissection puzzle.

M. Renard, 2018, Journal of thoracic disease.

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

A. De Paepe, S. Sharif, B. Callewaert, 2013, International journal of cardiology.

Sex, pregnancy and aortic disease in Marfan syndrome

D. Keene, L. Sakai, J. De Backer, 2017, PloS one.

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

Máté I. Tóth, R. Raedt, P. Sips, 2020, International journal of molecular sciences.

Correction: Sex, pregnancy and aortic disease in Marfan syndrome

D. Keene, L. Sakai, M. Renard, 2018, PloS one.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

A. F. Scott, D. Milewicz, H. Dietz, 2018, Journal of the American College of Cardiology.

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

H. Dietz, P. Segers, A. De Paepe, 2014, PloS one.

New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations

R. Mecham, E. Blair, A. De Paepe, 2011, Human mutation.

Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome.

I. van Herzeele, F. Vermassen, A. De Paepe, 2013, The Annals of thoracic surgery.

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

S. Menon, S. Nampoothiri, A. De Paepe, 2012, Orphanet Journal of Rare Diseases.

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers‐Danlos syndrome

A. De Paepe, B. Loeys, P. Coucke, 2009, Human mutation.

Reply: More Genes for Thoracic Aortic Aneurysms and Dissections.

D. Milewicz, J. De Backer, M. Renard, 2019, Journal of the American College of Cardiology.

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

A. De Paepe, B. Callewaert, P. Coucke, 2015, Current pharmaceutical design.

MEK1/2 Inhibition in Murine Heart and Aorta After Oral Administration of Refametinib Supplemented Drinking Water

N. Debunne, F. Verbeke, E. Wynendaele, 2020, Frontiers in Pharmacology.

Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE −/− mice follow-up of ascending formation in angiotensin II-infused ApoE −/−

P. Segers, B. Loeys, G. Meyer, 2022 .

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

A. De Paepe, B. Loeys, B. Callewaert, 2010, Clinical dysmorphology.

Resolving in-vivo flow fields in the systemic circulation of the mouse through combined ultrasound imaging and computational fluid dynamics

P. Segers, B. Loeys, B. Trachet, 2010, 2010 IEEE International Ultrasonics Symposium.

Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE−/− mice

Patrick Segers, Joris Bols, Steven Staelens, 2014 .

An Integrated Framework to Quantitatively Link Mouse-Specific Hemodynamics to Aneurysm Formation in Angiotensin II-infused ApoE −/− mice

Luca Antiga, Gianluca De Santis, Patrick Segers, 2011, Annals of Biomedical Engineering.

A heart for fibrillin: spatial arrangement in adult wild-type murine myocardial tissue

P. Sips, J. De Backer, J. van Hengel, 2018, Histochemistry and Cell Biology.

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

S. Ricard-Blum, A. De Paepe, P. Coucke, 2011, The Biochemical journal.

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Paul Coucke, Marjolijn Renard, Bart Loeys, 2013, International journal of cardiology.

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

H. Dietz, O. Başpınar, M. Earing, 2010, European Journal of Human Genetics.

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

D. Keene, L. Sakai, J. De Backer, 2016, Gene.

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.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.

D. Roden, H. Dietz, L. Sleeper, 2020, The Journal of pediatrics.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

C. Bodemer, M. Kempers, A. Plomp, 2013, Orphanet Journal of Rare Diseases.

Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome

J. Redondo, D. Milewicz, A. Evangelista, 2017, Nature Medicine.

The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.

E. Goetghebeur, C. Vervaet, P. Segers, 2012, International journal of cardiology.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in Medicine.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Ambulatory Electrocardiographic Monitoring and Ectopic Beat Detection in Conscious Mice

Patrick Segers, Julie De Backer, Robrecht Raedt, 2020, Sensors.

Replacing Vascular Corrosion Casting by In Vivo Micro-CT Imaging for Building 3D Cardiovascular Models in Mice

Patrick Segers, Bert Vandeghinste, Stefaan Vandenberghe, 2011, Molecular Imaging and Biology.

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

C. Vanhove, J. Essers, D. Reinhardt, 2020, Human molecular genetics.

SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

C. Vanhove, J. Essers, D. Reinhardt, 2019, bioRxiv.

Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans

J. De Sutter, P. Segers, A. De Paepe, 2015, Pediatric Research.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes

B. Menten, J. Hellemans, A. De Paepe, 2011, Human mutation.