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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
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Health-related quality of life in children and young adults with Marfan syndrome
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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
- A1
- open access
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
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Marfan syndrome
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- Conference Paper
- C3
- open access
Joubert syndrome in three siblings
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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
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Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
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- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
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Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE -/- mice
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
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Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome
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- Journal Article
- A1
- open access
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
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A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
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Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy
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Aortic hemodynamics and their role in aneurysm location: can mice provide more insight?
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Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene
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Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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- Journal Article
- A2
- open access
Lessons learned from the intersection of two frequent monogenic disorders : the Marfan syndrome and autosomal dominant polycystic kidney disease
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The Ghent Marfan trial: a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
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The new Ghent criteria for Marfan syndrome: what do they change ?
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Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients
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Genetic variations in toll-like receptor pathway and lung function decline in cystic fibrosis patients
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Nasal speech in patients with 12q15 microdeletions
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Hemodynamics in ascending and abdominal aorta aneurysm formation in the ApoE -/- angiotensin II mouse model
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A longitudinal study in ApoE mice comparing baseline hemodynamics to endstage aneurysm location in a mouse-specific way
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Is there a role for hemodynamics in AAA formation? A longitudinal in-vivo study in ApoE -/- mice
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
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A quantitative comparison between baseline hemodynamics and endstage aneurysm formation in apoE -/- mice
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An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice
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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
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Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
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Oorzaken en behandeling van aortadilatatie bij het bicuspide-aortaklepsyndroom
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Patienten-spezifisches Modell der Wandschubspannung von Aortenbogen
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Is AAA formation influenced by abdominal aortic hemodynamics?: a follow-up study in mice
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The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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- Journal Article
- A1
- open access
Replacing vascular corrosion casting by in-vivo micro-CT imaging for building 3D cardiovascular models in mice
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EFEMP2-related cutis laxa
(2011) GeneReviews®. -
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
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- Journal Article
- A1
- open access
The revised Ghent nosology for the Marfan syndrome
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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
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Cardiovascular manifestations in men and women carrying a FBN1 mutation
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A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation
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Investigating the role of hemodynamics in AAA formation through combined imaging and modelling: a longitudonal in vivo study in apoE mice
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Vascular corrosion casting vs in vivo micro-CT casting : what is the effect on wall shear stress calculations in the mouse aorta?
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Comparative aspects of non-invasive assessment of cardiovascular function in human and mouse by high-frequency ultrasound
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Comparison between vascular corrosion casting and in vivo micro-CT imaging for wall shear stress calculations in the mouse aorta
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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
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Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's
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The Loeys-Dietz syndrome: an update for the clinician
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Expanding the phenotype of sudden cardiac death: an unusual presentation of a family with a Lamin A/C mutation
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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Investigating the role of hemodynamics in AAA formation using an apoe -/- mouse model
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Resolving in-vivo flow fields in the systemic circulation of the mouse through combined ultrasound imaging and computational fluid dynamics
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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
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Connective Tissue Disorders
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Marfan and Marfan-like syndromes
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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
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Unusual 8p inverted duplication deletion with telomere capture from 8q
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
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A missence mutation in complement factor I associated with recurrent aseptic meningoencephalitis
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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
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Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Circulating Transforming Growth Factor-beta in Marfan Syndrome
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PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality (vol 30, pg E618, 2009)
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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
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Patient-specific modeling of aortic arch oscillatory shear index patterns in patients with Marfan syndrome
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The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch
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- Journal Article
- A1
- open access
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
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- Journal Article
- A1
- open access
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability
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Replacing vascular corrosion casting by in-vivo µCT imaging for building 3D cardiovascular models in mice
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Patient-specific modelling of aortic arch wall shear stress patterns in patients with Marfan syndrome
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Identification of copy number variants associated with BPES-like phenotypes
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New insights in the pathogenesis of aortic aneurysms
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
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Ehlers-Danios syndromes and Marfan syndrome
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Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
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Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
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- Conference Paper
- C3
- open access
Wall shear stress: a key determinant in normal arterial growth?
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- Conference Paper
- C3
- open access
The influence of aortic root diameter on wall shear stress in the mouse aortic arch
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- Journal Article
- A1
- open access
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
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Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation working group on research in Marfan syndrome and related disorders
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Discovery of genes in thoracic aortic aneurysms
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Wall shear stress in the mouse aortic arch: does size matter?
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Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
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Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
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New insights into the pathogenesis and treatment of arterial aneurysms and dissections
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Een Belgische patiënt met Arterial Tortuosity Syndrome
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Arteriële tortuositeit door fout in glucosetransporter
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Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome
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Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states (vol 12, pg 204, 2007)
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Loeys-Dietz syndrome: MDCT angiography findings
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Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance
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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
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The Loeys-Dietz syndrome
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The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance
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Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease
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Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
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Aneurysm syndromes caused by mutations in the TGF-beta receptor
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
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A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome
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The molecular genetics of Marfan syndrome and related disorders
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Detailed description of cardiovascular findings in Loeys-Dietz syndrome, a widespread and aggressive aortic aneurysm syndrome
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The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
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Mutation analysis of the FBN1 gene in individuals with Marfan syndrome: sensitivity, methods, clinical indications
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Loeys-Dietz syndrome: a new aortic aneurysm syndrome with an aggressive clinical course and widespread vascular involvement
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- Journal Article
- A1
- open access
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
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Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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Genotype and phenotype study of inherited defects of the elastic fiber
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database
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Cutis Laxa of the autosomal recessive type in a consanguineous family
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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
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Moleculaire genetica bij de vasculaire vorm van het syndroom van Ehlers-Danlos
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Aangeboren afwijkingen van het spraakorgaan
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Rationalised ACE inhibition (ACE-I) dosing in non-hypertensive children
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Critical appraisal of dose-response ACE-I studies in hypertensive patients
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Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.
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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
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The natural history of human dermatosparaxis (Ehlers-Danios Syndrome VII C)
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A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features
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The natural history of human dermatosparaxis (Ehlers-Danlos syndrome VII C)
(2002) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 10(Supplement 1). p.126-126 -
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
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Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
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Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.
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A newborn with microphtalmia and pulmonary hypoplasia: Matthew-Wood syndrome confirmed?
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Occipital Horn syndrome in a 2-year-old boy.
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The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs.
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
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- Conference Paper
- C3
- open access
Les enfants énurétiques avec une capacité vesicale petite comme sele signe clinique : pas d'énurésie nocturne monosymptomatique?
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Rationele aanpak van mictie en continentieproblemen bij kinderen : het Gents model, multidisciplinaire aanpak
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Bruck syndrome: neonatal presentation and natural course in three patients.
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Klinische Genetica. Een medische tak in volle expansie. Hoofdstuk voor het boek 'Het Medisch Jaar' (editie 1998), 1997.