Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

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

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

Genetic testing for inherited cardiac disease. Nat Rev Cardiol (2013) 1.20

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

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

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet (1993) 0.97

Cardiac troponin mutations and restrictive cardiomyopathy. J Biomed Biotechnol (2010) 0.93

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92

Contractility parameters of human β-cardiac myosin with the hypertrophic cardiomyopathy mutation R403Q show loss of motor function. Sci Adv (2015) 0.85

Multiple disease genes cause hypertrophic cardiomyopathy. Br Heart J (1994) 0.84

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity. Biochem Res Int (2012) 0.83

Molecular basis of hypertrophic and dilated cardiomyopathy. Tex Heart Inst J (1994) 0.83

Angiotensin-converting enzyme and angiotensinogen gene polymorphism in hypertrophic cardiomyopathy. Exp Clin Cardiol (2003) 0.82

A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management. Circ Cardiovasc Genet (2013) 0.79

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy. Heart (1996) 0.79

The sarcomeric M-region: a molecular command center for diverse cellular processes. Biomed Res Int (2015) 0.76

Genetic counselling for hypertrophic cardiomyopathy: are we ready for it? Curr Control Trials Cardiovasc Med (2000) 0.75

Genetic test for dilated and hypertrophic cardiomyopathies: useful or less than useful for patients? Transl Med UniSa (2013) 0.75

Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report. Exp Clin Cardiol (2001) 0.75

Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases. BMC Genomics (2016) 0.75

A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res (1984) 181.98

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet (1989) 62.23

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20

Idiopathic hypertrophic subaortic stenosis. Clinical analysis of 126 patients with emphasis on the natural history. Circulation (1968) 3.82

Asymmetric septal hypertrophy. Echocardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation (1973) 3.31

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70

Myocardial ultrastructure in idiopathic hypertrophic subaortic stenosis. A study of operatively excised left ventricular outflow tract muscle in 14 patients. Circulation (1972) 2.49

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

A family with obstructive cardiomyopathy (asymmetrical hypertrophy). Br Heart J (1960) 2.34

Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a two-dimensional echocardiographic study. J Am Coll Cardiol (1983) 2.34

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med (1991) 2.11

Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. Am J Med (1961) 1.97

Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis. N Engl J Med (1973) 1.96

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell (1990) 1.92

The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics (1990) 1.67

Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol (1984) 1.67

Hypertrophic cardiomyopathy in infants: clinical features and natural history. Circulation (1982) 1.64

CA repeat polymorphism at the ASS locus. Nucleic Acids Res (1990) 1.59

Hypertrophic cardiomyopathy: a discussion of nomenclature. Am J Cardiol (1979) 1.55

The current status of myocardial disarray in hypertrophic cardiomyopathy. Br Heart J (1984) 1.47

Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. Circulation (1992) 1.29

Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families. Br Heart J (1987) 1.27

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet (1990) 1.14

Echocardiographic measurement of right ventricular wall thickness in hypertrophic cardiomyopathy: relation to clinical and prognostic features. J Am Coll Cardiol (1988) 1.13

Dinucleotide repeat polymorphism at the int-2 proto-oncogene locus (INT2). Nucleic Acids Res (1990) 1.08

Idiopathic hypertrophic subvalvular stenosis. A study of a family involving four generations. Clinical, hemodynamic and pathologic observations. Am J Cardiol (1966) 1.04

Trinucleotide repeat polymorphism at the human pancreatic phospholipase A-2 gene (PLA2). Nucleic Acids Res (1990) 0.95

Dinucleotide repeat polymorphism at the human cardiac beta-myosin gene. Nucleic Acids Res (1991) 0.89

Dinucleotide repeat polymorphism at the D21S172 locus. Nucleic Acids Res (1991) 0.85

Hypertrophic cardiomyopathy in three generations of a large Norwegian family. A clinical, echocardiographic, and genetic study. Br Heart J (1986) 0.82

Dinucleotide repeat polymorphism at the human preproglucagon gene. Nucleic Acids Res (1991) 0.81

Dinucleotide repeat polymorphism at the D1S103 locus. Nucleic Acids Res (1990) 0.78

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

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20

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

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

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

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

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

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

Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis. Genes Dev (1987) 2.24

Molecular map of the murine S region. Proc Natl Acad Sci U S A (1983) 2.24

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet (1994) 2.23

Control of expression of histocompatibility antigens (H-2) and beta 2-microglobulin in F9 teratocarcinoma stem cells. Proc Natl Acad Sci U S A (1981) 2.22

A comparison of two cloned mouse beta-globin genes and their surrounding and intervening sequences. Cell (1978) 2.20