Published in Circulation on October 06, 1998
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell (1995) 10.18
Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med (1999) 9.73
Decreased heart rate variability and its association with increased mortality after acute myocardial infarction. Am J Cardiol (1987) 9.10
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA (1997) 8.30
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation (2000) 7.50
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
Clinical profile of congenital coronary artery anomalies with origin from the wrong aortic sinus leading to sudden death in young competitive athletes. J Am Coll Cardiol (2000) 7.39
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet (1996) 7.35
Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet (1999) 6.90
The Marfan syndrome: diagnosis and management. N Engl J Med (1979) 6.49
Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science (1998) 5.98
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell (2001) 5.77
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet (1997) 5.11
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med (1994) 5.03
An experimental model of sudden death due to low-energy chest-wall impact (commotio cordis) N Engl J Med (1998) 4.92
Risk factors for arrhythmia and sudden cardiac death late after repair of tetralogy of Fallot: a multicentre study. Lancet (2000) 4.75
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60
Diagnostic criteria for the long QT syndrome. An update. Circulation (1993) 4.48
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
The skipping of constitutive exons in vivo induced by nonsense mutations. Science (1993) 4.41
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med (2000) 4.30
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med (1998) 4.29
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20
Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med (1999) 4.17
The management of hypertrophic cardiomyopathy. N Engl J Med (1997) 4.15
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell (1993) 4.13
Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med (2000) 4.04
Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med (2000) 3.99
The long QT syndrome. Prospective longitudinal study of 328 families. Circulation (1991) 3.99
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet (2009) 3.89
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation (1995) 3.79
The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes Dev (1998) 3.71
A mouse model of familial hypertrophic cardiomyopathy. Science (1996) 3.69
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med (1990) 3.63
What is immoral about eugenics? BMJ (1999) 3.43
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet (1995) 3.42
Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med (1998) 3.41
Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science (1991) 3.38
Profile of preparticipation cardiovascular screening for high school athletes. JAMA (1998) 3.36
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet (1996) 3.24
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet (1995) 3.18
The upper limit of physiologic cardiac hypertrophy in highly trained elite athletes. N Engl J Med (1991) 3.17
Sudden death in young athletes. Circulation (1980) 3.05
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet (1997) 2.98
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest (1994) 2.98
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.97
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest (1999) 2.95
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation (2000) 2.95
Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J (2001) 2.93
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. Am J Hum Genet (2007) 2.91
Living alone after myocardial infarction. Impact on prognosis. JAMA (1992) 2.88
Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1). N Engl J Med (1987) 2.88
Left cardiac sympathetic denervation in the therapy of congenital long QT syndrome. A worldwide report. Circulation (1991) 2.87
Multipractice analysis of laparoscopic cholecystectomy in 1,983 patients. Am J Surg (1992) 2.87
A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc Natl Acad Sci U S A (1998) 2.87
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) N Engl J Med (1994) 2.82
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nat Biotechnol (2001) 2.82
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A (1999) 2.80
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70
Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation (1996) 2.70
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A (1999) 2.70
Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy. Circulation (1979) 2.68
Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood (2001) 2.65
Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol (1995) 2.62
Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med (1986) 2.59
Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med (1997) 2.57
Electrophysiologic abnormalities in patients with hypertrophic cardiomyopathy. A consecutive analysis in 155 patients. Circulation (1989) 2.56
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest (2000) 2.56
When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell (2001) 2.55
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med (2010) 2.55
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation (1998) 2.53
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics (1993) 2.43
Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients. Am J Cardiol (1981) 2.37
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res (2000) 2.35
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum Mol Genet (2001) 2.35
Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death. J Am Coll Cardiol (2000) 2.33
Causes of sudden death in competitive athletes. J Am Coll Cardiol (1986) 2.31
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet (1995) 2.30
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med (1994) 2.29