A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.

Fibrillins in Tendon. Front Aging Neurosci (2016) 0.75

Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31

The revised Ghent nosology for the Marfan syndrome. J Med Genet (2010) 6.87

2008 focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to revise the 1998 guidelines for the management of patients with valvular heart disease). Endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol (2008) 5.99

Guidelines on the management of valvular heart disease (version 2012): the Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC) and the European Association for Cardio-Thoracic Surgery (EACTS). Eur J Cardiothorac Surg (2012) 5.49

Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11

Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med (1994) 5.03

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 Guidelines, American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine. J Am Coll Cardiol (2010) 4.90

Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol (1989) 4.27

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93

The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35

Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (2011) 3.18

Thoracic aortic aneurysm and dissection: increasing prevalence and improved outcomes reported in a nationwide population-based study of more than 14,000 cases from 1987 to 2002. Circulation (2006) 3.08

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg (2006) 2.61

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44

Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J (2013) 2.37

Echocardiography in aortic diseases: EAE recommendations for clinical practice. Eur J Echocardiogr (2010) 2.01

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol (2015) 1.84

Retracted Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA (2007) 1.69

Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Eur Heart J (2015) 1.66

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr (1995) 1.57

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Circ Cardiovasc Genet (2015) 1.55

Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A (2007) 1.54

Aortic root measurement by cardiovascular magnetic resonance: specification of planes and lines of measurement and corresponding normal values. Circ Cardiovasc Imaging (2008) 1.51

Efficacy of losartan vs. atenolol for the prevention of aortic dilation in Marfan syndrome: a randomized clinical trial. Eur Heart J (2015) 1.46

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. Am J Med Genet A (2014) 1.20

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility. Circ Res (2013) 1.19

Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome. Arterioscler Thromb Vasc Biol (2015) 1.13

Aortic event rate in the Marfan population: a cohort study. Circulation (2011) 1.09

The genetics and genomics of thoracic aortic disease. Ann Cardiothorac Surg (2013) 1.08

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am J Hum Genet (1998) 1.07

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet (2007) 1.07

Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol (2006) 1.00

The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet (2010) 1.00

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet A (2008) 0.99

Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med Genet (2001) 0.97

Aortic dilatation in patients with bicuspid aortic valve. J Cardiovasc Med (Hagerstown) (2006) 0.96

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. Can J Cardiol (2014) 0.94

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. Am J Hum Genet (1999) 0.91

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet (2001) 0.91

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Hum Mutat (2016) 0.90

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A (2007) 0.90

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet (1999) 0.89

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration. Am Heart J (2015) 0.88

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr (1997) 0.88

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. BMC Med Genet (2011) 0.88

Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome. Heart (2013) 0.88

Chronic beta-blocker therapy improves outcome and reduces treatment costs in chronic type B aortic dissection. Eur J Cardiothorac Surg (2001) 0.86

Practical genetics of thoracic aortic aneurysm. Prog Cardiovasc Dis (2013) 0.85

A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. J Mol Cell Cardiol (1997) 0.84

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J Mol Cell Cardiol (2006) 0.82

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. Am J Med Genet A (2014) 0.82

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus. BMC Med Genet (2010) 0.81

Statins are associated with decreased mortality in abdominal, but not in thoracic aortic aneurysm patients undergoing endovascular repair: propensity score-adjusted analysis. Vasa (2008) 0.81

TGF-β signalopathies as a paradigm for translational medicine. Eur J Med Genet (2015) 0.81

Family history, comorbidity and risk of thoracic aortic disease: a population-based case-control study. Heart (2013) 0.79

Diagnosis and treatment of Marfan syndrome: an update. Heart (2014) 0.78

Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives. J Vasc Surg (2013) 0.78

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism. Taiwan J Obstet Gynecol (2013) 0.78

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection. Can J Cardiol (2015) 0.77