Physician

Radiology

Bart Loeys practices Radiology. Bart Loeys is a published doctor as well. He has 97 publications published. The latest was: Bruck syndrome: neonatal presentation and natural course in three patients.

Publications

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• Atenolol versus losartan in children and young adults with Marfan's syndrome.
• Loeys-Dietz syndrome: a primer for diagnosis and management.
• Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
• The 8th International Research Symposium on the Marfan Syndrome and related conditions.
• Occipital Horn syndrome in a 2-year-old boy.
• Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
• Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
• Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR s...
• Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
• Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.
• Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
• Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.
• Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
• Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
• Cutis laxa of the autosomal recessive type in a consanguineous family.
• Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
• Telomeric refinement of the MCKD1 locus on chromosome 1q21.
• DUP25 remains unconfirmed.
• Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
• The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
• Recent progress towards a molecular understanding of Marfan syndrome.
• Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
• The molecular genetics of Marfan syndrome and related disorders.
• Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
• A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome.
• Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
• Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome.
• The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood synd...
• Bruck syndrome: neonatal presentation and natural course in three patients.
• Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.
• Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
• Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
• Ehlers-Danlos syndromes and Marfan syndrome.
• Aortic dissection in a young man with Loeys-Dietz syndrome.
• Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.
• New insights in the pathogenesis of aortic aneurysms.
• Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.
• Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.
• Identification of copy number variants associated with BPES-like phenotypes.
• COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
• The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch.
• Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
• PORCN mutations in focal dermal hypoplasia: coping with lethality.
• Circulating transforming growth factor-beta in Marfan syndrome.
• Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.
• Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
• 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.
• Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome.
• Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
• Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
• Unusual 8p inverted duplication deletion with telomere capture from 8q.
• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
• Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
• Replacing vascular corrosion casting by in vivo micro-CT imaging for building 3D cardiovascular models in mice.
• New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
• A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
• Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
• The Loeys-Dietz syndrome: an update for the clinician.
• Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine.
• New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
• Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
• Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
• An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice.
• Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
• The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data.
• Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy.
• The diagnostic value of the facial features of Marfan syndrome.
• What is new in dilatation of the ascending aorta? Review of current literature and practical advice for the cardiologist.
• Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice.
• Musculoskeletal findings of Loeys-Dietz syndrome.
• Cardiovascular manifestations in men and women carrying a FBN1 mutation.
• The revised Ghent nosology for the Marfan syndrome.
• Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.
• 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.
• Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
• Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
• Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on pati...
• Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
• Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
• Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.
• Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
• Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
• 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.
• The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.
• Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
• Loeys-Dietz syndrome: MDCT angiography findings.
• Aneurysm syndromes caused by mutations in the TGF-beta receptor.
• Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
• Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
• Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states.
• Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.
• Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
• Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.
• A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
• Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.

Doctors Specialties

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• Clinical Genetics
• Radiology

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