Published in Eur J Pediatr on July 17, 2012
Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med (2014) 2.46
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. Eur J Pediatr (2013) 0.81
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. Eur Radiol (2014) 0.78
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. Eur J Pediatr (2013) 0.75
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet (2003) 11.01
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68
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
Angiotensin II promotes atherosclerotic lesions and aneurysms in apolipoprotein E-deficient mice. J Clin Invest (2000) 6.84
Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med (1994) 5.03
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet (2007) 4.93
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol (2011) 3.97
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet (2006) 3.65
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (2011) 3.49
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet (2010) 3.36
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (2011) 3.18
Life expectancy in the Marfan syndrome. Am J Cardiol (1995) 3.14
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet (2000) 3.07
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med (2010) 2.55
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet (2009) 2.50
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med (2001) 2.34
TGF-beta activity protects against inflammatory aortic aneurysm progression and complications in angiotensin II-infused mice. J Clin Invest (2010) 2.32
The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet (2012) 2.29
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. Am Heart J (2007) 2.14
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem (1988) 1.88
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol (2009) 1.74
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet (2009) 1.53
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation (1996) 1.47
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet (2009) 1.34
Cutis laxa: a review. J Am Acad Dermatol (2012) 1.32
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A (2011) 1.31
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A (2007) 1.29
Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child (2001) 1.23
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome. Clin Genet (2011) 1.18
Rationale and design of a trial evaluating the effects of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations. J Cardiovasc Med (Hagerstown) (2009) 1.16
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis (2010) 1.08
The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers. Int J Cardiol (2011) 1.04
Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial. Trials (2010) 1.04
The new Ghent criteria for Marfan syndrome: what do they change? Clin Genet (2011) 0.98
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Clin Genet (2011) 0.83
Genetic diseases of bones and joints. Semin Diagn Pathol (2011) 0.78
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med (2007) 5.25
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (2011) 3.49
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med (2013) 1.75
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg (2007) 1.75
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
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. Pediatrics (2009) 1.67
What is new in dilatation of the ascending aorta? Review of current literature and practical advice for the cardiologist. Circulation (2011) 1.63
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet (2006) 1.31
Loeys-Dietz syndrome: MDCT angiography findings. AJR Am J Roentgenol (2007) 1.23
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
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat (2009) 1.18
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J (2013) 1.14
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet (2012) 1.10
Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics (2006) 0.98
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A (2013) 0.93
Musculoskeletal findings of Loeys-Dietz syndrome. J Bone Joint Surg Am (2010) 0.88
Marfan syndrome: from gene to therapy. Curr Opin Pediatr (2012) 0.87
An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases? Hum Mutat (2014) 0.83
A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome. Genet Med (2013) 0.83
The diagnostic value of the facial features of Marfan syndrome. J Child Orthop (2010) 0.80
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.75