Show
Sort by
-
- Journal Article
- A1
- open access
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation
-
Health-related quality of life in children and young adults with Marfan syndrome
-
Arterial tortuosity syndrome : 40 new families and literature review
-
- Journal Article
- A1
- open access
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
-
Marfan syndrome
-
- Conference Paper
- C3
- open access
Joubert syndrome in three siblings
-
Joubert syndrome in three siblings
(2015) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS. In Tijdschrift van de Belgische kinderarts 17(1). p.93-93 -
- Journal Article
- A1
- open access
Atenolol versus losartan in children and young adults with Marfan's syndrome
-
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
-
- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
-
Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE -/- mice
-
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
-
Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome
-
- Journal Article
- A1
- open access
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
-
A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
-
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy
-
Aortic hemodynamics and their role in aneurysm location: can mice provide more insight?
-
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene
-
Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients
-
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
-
Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
-
- Journal Article
- A2
- open access
Lessons learned from the intersection of two frequent monogenic disorders : the Marfan syndrome and autosomal dominant polycystic kidney disease
-
The Ghent Marfan trial: a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers
-
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
-
The new Ghent criteria for Marfan syndrome: what do they change ?
-
Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
-
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
-
Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients
-
Genetic variations in toll-like receptor pathway and lung function decline in cystic fibrosis patients
-
Nasal speech in patients with 12q15 microdeletions
-
Hemodynamics in ascending and abdominal aorta aneurysm formation in the ApoE -/- angiotensin II mouse model
-
A longitudinal study in ApoE mice comparing baseline hemodynamics to endstage aneurysm location in a mouse-specific way
-
Is there a role for hemodynamics in AAA formation? A longitudinal in-vivo study in ApoE -/- mice
-
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
-
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
-
A quantitative comparison between baseline hemodynamics and endstage aneurysm formation in apoE -/- mice
-
An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice
-
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
-
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
-
Oorzaken en behandeling van aortadilatatie bij het bicuspide-aortaklepsyndroom
-
Patienten-spezifisches Modell der Wandschubspannung von Aortenbogen
-
Is AAA formation influenced by abdominal aortic hemodynamics?: a follow-up study in mice
-
The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data
-
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
-
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
-
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
-
- Journal Article
- A1
- open access
Replacing vascular corrosion casting by in-vivo micro-CT imaging for building 3D cardiovascular models in mice
-
EFEMP2-related cutis laxa
(2011) GeneReviews®. -
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
-
- Journal Article
- A1
- open access
The revised Ghent nosology for the Marfan syndrome