Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
about
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsClinical assessment incorporating a personal genomeThe effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse heartsCoding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyGenotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninDiagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesDiastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model miceIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentFamilial hypertrophic cardiomyopathy can be characterized by a specific pattern of orientation fluctuations of actin molecules .Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosinThe role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.Effect of a myosin regulatory light chain mutation K104E on actin-myosin interactions.Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Cardiogenetic counselling in a non-university hospital.Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve AbnormalitiesEarly results of sarcomeric gene screening from the Egyptian National BA-HCM Program.Genetic basis of hypertrophic cardiomyopathy.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathyPrevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.A comparison of genetic findings in sudden cardiac death victims and cardiac patients: the importance of phenotypic classification.Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.Kinetics of a single cross-bridge in familial hypertrophic cardiomyopathy heart muscle measured by reverse Kretschmann fluorescence.Single molecule kinetics in the familial hypertrophic cardiomyopathy D166V mutant mouse heart.Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.Stability and kinetic properties of C5-domain from myosin binding protein C and its mutants.Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.Single molecule detection approach to muscle study: kinetics of a single cross-bridge during contraction of muscle.Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle.Amyloid heart disease mimicking hypertrophic cardiomyopathy*
P2860
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P2860
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@ast
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@en
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@nl
type
label
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@ast
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@en
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@nl
prefLabel
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@ast
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@en
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@nl
P2093
P50
P3181
P1476
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
@en
P2093
Bernard Hainque
Elsadig Kazzam
Ketty Schwartz
Stellan Mörner
P3181
P356
10.1016/S0022-2828(03)00146-9
P407
P577
2003-07-01T00:00:00Z