Published in N Engl J Med on April 23, 1992
Genetic Analysis of Familial Hypertrophic Cardiomyopathy | NCT00005251
The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83
The molecular basis of genetic dominance. J Med Genet (1994) 2.39
Screening for hypertrophic cardiomyopathy. BMJ (1993) 2.31
Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation (2001) 2.23
A transgenic rabbit model for human hypertrophic cardiomyopathy. J Clin Invest (1999) 2.19
Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation (2010) 2.15
Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med (2008) 2.12
Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev (2005) 2.10
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. J Clin Invest (1996) 2.09
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest (1993) 2.04
Increased circulating cytokines in patients with myocarditis and cardiomyopathy. Br Heart J (1994) 1.85
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.77
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest (1995) 1.75
Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation (2000) 1.72
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1995) 1.70
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest (1994) 1.69
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62
Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression. JACC Heart Fail (2014) 1.58
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res (2011) 1.58
Clinical utility of cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson (2012) 1.51
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A (1993) 1.47
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. BMJ (1995) 1.44
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation (2011) 1.41
Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. Proc Natl Acad Sci U S A (2005) 1.38
Genetic determinants of cardiac hypertrophy. Curr Opin Cardiol (2008) 1.35
Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. J Clin Invest (1996) 1.35
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest (1992) 1.30
Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc Natl Acad Sci U S A (1998) 1.29
Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. J Clin Invest (1999) 1.28
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet (2013) 1.27
Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience. Neth Heart J (2007) 1.23
Genetic testing for inherited cardiac disease. Nat Rev Cardiol (2013) 1.20
Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res (2015) 1.19
Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation (2010) 1.18
Hypertrophic cardiomyopathy: from genetics to treatment. Eur J Clin Invest (2010) 1.17
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Br Heart J (1993) 1.15
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet (1999) 1.15
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest (1997) 1.13
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest (1993) 1.13
Identifying modifier genes of monogenic disease: strategies and difficulties. Hum Genet (2008) 1.13
Contemporary treatment of hypertrophic cardiomyopathy. Tex Heart Inst J (2009) 1.12
Genetics of inherited cardiomyopathy. Eur Heart J (2011) 1.11
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart (2003) 1.11
Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med (2010) 1.07
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. Biophys J (1998) 1.04
Evolution of expression of cardiac phenotypes over a 4-year period in the beta-myosin heavy chain-Q403 transgenic rabbit model of human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2004) 1.03
Myosin filament 3D structure in mammalian cardiac muscle. J Struct Biol (2008) 1.03
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am J Hum Genet (1994) 1.03
Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet (2015) 1.02
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart (1998) 1.00
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. Basic Res Cardiol (2011) 0.98
Reduction in left ventricular wall thickness after deconditioning in highly trained Olympic athletes. Br Heart J (1993) 0.98
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet (1993) 0.97
Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. Br Heart J (1995) 0.93
Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1994) 0.93
The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. Br Heart J (1994) 0.93
Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities. J Interv Card Electrophysiol (1998) 0.92
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. Circ Res (2014) 0.91
Myocardial beta adrenoceptors and left ventricular function in hypertrophic cardiomyopathy. Heart (1996) 0.91
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. J Biol Chem (2012) 0.91
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. J Cardiovasc Transl Res (2012) 0.89
The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin. J Biol Chem (2013) 0.89
Genetic testing for hypertrophic cardiomyopathy. N Engl J Med (1992) 0.88
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol (2008) 0.87
Familial dilated cardiomyopathy. Br Heart J (1994) 0.86
Risk factors and stratification for sudden cardiac death in patients with hypertrophic cardiomyopathy. Br Heart J (1994) 0.85
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol (2008) 0.84
Cardiovascular effects of losartan and its relevant clinical application. Curr Med Chem (2009) 0.84
Multiple disease genes cause hypertrophic cardiomyopathy. Br Heart J (1994) 0.84
On predictors of sudden cardiac death in hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 0.83
Molecular basis of hypertrophic and dilated cardiomyopathy. Tex Heart Inst J (1994) 0.83
From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy. Heart (2004) 0.82
Transgenic rabbit models for studying human cardiovascular diseases. Comp Med (2012) 0.81
Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. J Mol Cell Cardiol (2013) 0.81
Counselling issues in familial hypertrophic cardiomyopathy. J Med Genet (1998) 0.81
Hypertrophic cardiomyopathy. Arch Dis Child (1994) 0.81
Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol (2014) 0.80
Impact of Mendelian inheritance in cardiovascular disease. Ann N Y Acad Sci (2010) 0.80
Apoptosis in dilated cardiomyopathy. Korean J Intern Med (2000) 0.79
To screen or not is not the question--it is when and how to screen. Circulation (2003) 0.79
Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics. Genes (Basel) (2014) 0.78
Hypertrophic cardiomyopathy: how do mutations lead to disease? Arq Bras Cardiol (2014) 0.78
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. Heart (2015) 0.78
Cardiac remodeling and physical training post myocardial infarction. World J Cardiol (2015) 0.77
Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy. Can J Cardiol (2010) 0.77
Surgical management of hypertrophic cardiomyopathy in 2007: what is new? World J Surg (2008) 0.77
Mapping of the actomyosin interfaces. Proc Natl Acad Sci U S A (1994) 0.77
Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy. Heart (1997) 0.77
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. Heart Vessels (2016) 0.76
Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Heart (1996) 0.76
Thick and thin filament gene mutations in striated muscle diseases. Int J Mol Sci (2008) 0.76
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein. Croat Med J (2011) 0.76
Sequences of five potential recombination sites encoded close to an immunoglobulin kappa constant region gene. Proc Natl Acad Sci U S A (1979) 9.31
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation (1996) 9.00
Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments. Cell (1980) 8.77
Identification of a putative second T-cell receptor. Nature (1986) 7.90
Production of homozygous mutant ES cells with a single targeting construct. Mol Cell Biol (1992) 7.23
Mouse beta 2-microglobulin cDNA clones: a screening procedure for cDNA clones corresponding to rare mRNAs. Proc Natl Acad Sci U S A (1981) 6.67
A kappa-immunoglobulin gene is formed by site-specific recombination without further somatic mutation. Nature (1979) 6.54
Truncations of titin causing dilated cardiomyopathy. N Engl J Med (2012) 6.07
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
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61
Cloning specific segments of the mammalian genome: bacteriophage lambda containing mouse globin and surrounding gene sequences. Proc Natl Acad Sci U S A (1977) 5.28
Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science (2007) 5.19
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet (1997) 5.11
Antibody diversity. Science (1978) 5.06
The arrangement and rearrangement of antibody genes. Nature (1979) 4.88
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med (1995) 4.37
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
MCP-1 and IL-8 trigger firm adhesion of monocytes to vascular endothelium under flow conditions. Nature (1999) 4.19
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
Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene. Proc Natl Acad Sci U S A (1978) 4.02
Akt activation preserves cardiac function and prevents injury after transient cardiac ischemia in vivo. Circulation (2001) 3.98
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Multiple related immunoglobulin variable-region genes identified by cloning and sequence analysis. Proc Natl Acad Sci U S A (1978) 3.88
A T-cell receptor gamma/CD3 complex found on cloned functional lymphocytes. Nature (1987) 3.81
Structure and expression of a mouse major histocompatibility antigen gene, H-2Ld. Proc Natl Acad Sci U S A (1982) 3.73
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science (2003) 3.71
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med (2005) 3.71
A mouse model of familial hypertrophic cardiomyopathy. Science (1996) 3.69
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med (2010) 3.42
High capacity gel preparative electrophoresis for purification of fragments of genomic DNA. Anal Biochem (1978) 3.42
Transcription of mouse kappa chain genes: implications for allelic exclusion. Proc Natl Acad Sci U S A (1980) 3.38
Two forms of the T-cell receptor gamma protein found on peripheral blood cytotoxic T lymphocytes. Nature (1987) 3.37
The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet (2005) 3.36
Exon shuffling: mapping polymorphic determinants on hybrid mouse transplantation antigens. Nature (1982) 3.34
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet (1996) 3.24
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation (2002) 3.20
Restoration of contractile function in isolated cardiomyocytes from failing human hearts by gene transfer of SERCA2a. Circulation (1999) 3.19
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet (1995) 3.18
Prognosis in hypertrophic cardiomyopathy: role of age and clinical, electrocardiographic and hemodynamic features. Am J Cardiol (1981) 3.12
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.97
Structure of wild-type and mutant mouse beta 2-microglobulin genes. Cell (1982) 2.97
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest (1999) 2.95
Progression to diabetes in nonobese diabetic (NOD) mice with transgenic T cell receptors. Science (1993) 2.94
Shared human T cell receptor V beta usage to immunodominant regions of myelin basic protein. Science (1990) 2.86
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) N Engl J Med (1994) 2.82
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods (2009) 2.71
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 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
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest (2000) 2.56
Adenoviral gene transfer of SERCA2a improves left-ventricular function in aortic-banded rats in transition to heart failure. Proc Natl Acad Sci U S A (2000) 2.45
Expression of H-2Dd and H-2Ld mouse major histocompatibility antigen genes in L cells after DNA-mediated gene transfer. J Immunol (1983) 2.45
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Glycogen synthase kinase-3beta is a negative regulator of cardiomyocyte hypertrophy. J Cell Biol (2000) 2.40
Adenoviral gene transfer of activated phosphatidylinositol 3'-kinase and Akt inhibits apoptosis of hypoxic cardiomyocytes in vitro. Circulation (1999) 2.40
Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis. Nat Genet (2012) 2.39
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res (2000) 2.35
Akt participation in the Wnt signaling pathway through Dishevelled. J Biol Chem (2001) 2.31
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation (2003) 2.28
AMP-activated protein kinase in the heart: role during health and disease. Circ Res (2007) 2.27
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest (2002) 2.26
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet (1994) 2.26
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet (2003) 2.25
A mutant immunoglobulin light chain is formed by aberrant DNA- and RNA-splicing events. Nature (1980) 2.25