| scholarly article | Q13442814 |
| P50 | author | Anne De Paepe | Q13429701 |
| Julie De Backer | Q39402441 | ||
| Bert Callewaert | Q41702074 | ||
| P2093 | author name string | Marjolijn Renard | |
| Paul Coucke | |||
| Katrien François | |||
| Laurence Campens | |||
| P2860 | cites work | Mutations in myosin light chain kinase cause familial aortic dissections | Q24305957 |
| Mutations in NOTCH1 cause aortic valve disease | Q24307999 | ||
| Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein | Q24317720 | ||
| Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms | Q24323103 | ||
| Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood | Q24338930 | ||
| Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome | Q24548457 | ||
| Marfan's syndrome | Q24553344 | ||
| Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease | Q24645526 | ||
| Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action | Q28140281 | ||
| Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo | Q28143226 | ||
| A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 | Q28236792 | ||
| Aneurysm syndromes caused by mutations in the TGF-beta receptor | Q28259654 | ||
| Angiotensin II blockade and aortic-root dilation in Marfan's syndrome | Q28285199 | ||
| The revised Ghent nosology for the Marfan syndrome | Q28286547 | ||
| Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome | Q28303072 | ||
| Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome | Q29618845 | ||
| Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome | Q30476899 | ||
| In vivo studies of mutant fibrillin-1 microfibrils | Q30495864 | ||
| Acute aortic dissection associated with use of cocaine | Q33297984 | ||
| Familial patterns of thoracic aortic aneurysms. | Q33591709 | ||
| TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome | Q33662519 | ||
| Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type | Q33892636 | ||
| Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome | Q33979512 | ||
| Aortic dissection in young adults who abuse amphetamines | Q34076770 | ||
| 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli | Q34104296 | ||
| 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli | Q34107875 | ||
| Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. | Q34136829 | ||
| A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome | Q34219428 | ||
| Marfan syndrome. Long-term survival and complications after aortic aneurysm repair | Q34316514 | ||
| Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency | Q34329440 | ||
| Heterozygous TGFBR2 mutations in Marfan syndrome | Q34331334 | ||
| Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease | Q34574427 | ||
| Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. | Q34712315 | ||
| Genetic basis of thoracic aortic aneurysms and dissections | Q35017262 | ||
| Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. | Q35658966 | ||
| Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. | Q36291438 | ||
| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome | Q36365675 | ||
| Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm | Q36534922 | ||
| Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm | Q36740575 | ||
| Lessons on the pathogenesis of aneurysm from heritable conditions | Q36756427 | ||
| The regulation of TGFbeta signal transduction | Q37621155 | ||
| Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. | Q38290911 | ||
| Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. | Q43169442 | ||
| Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. | Q43627188 | ||
| Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome | Q43774369 | ||
| Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns | Q43787071 | ||
| Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants | Q48493613 | ||
| Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes | Q49062027 | ||
| Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. | Q51867341 | ||
| ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). | Q55053363 | ||
| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity | Q55671012 | ||
| Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene | Q55671357 | ||
| Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis | Q55671558 | ||
| Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome | Q57150245 | ||
| Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardio | Q57217547 | ||
| Thoracoabdominal aorta in Marfan syndrome: MR imaging findings of progression of vasculopathy after surgical repair | Q73383158 | ||
| Dissection in Marfan syndrome: the importance of the descending aorta | Q82835511 | ||
| SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction | Q83782759 | ||
| Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms | Q84676977 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 135-145 | |
| P577 | publication date | 2013-07-01 | |
| P1433 | published in | Aorta (Stamford, Conn.) | Q27727013 |
| P1476 | title | Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice | |
| P478 | volume | 1 |
| Q40977010 | Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling |
| Q52654303 | Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. |
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