Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
about
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden deathGenotype-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 relativesDetermination of the critical residues responsible for cardiac myosin binding protein C's interactionsRisk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers.Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 geneMelusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic CardiomyopathyOn predictors of sudden cardiac death in hypertrophic cardiomyopathy.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Modifier genes for hypertrophic cardiomyopathyResearch priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?Genetic determinants of cardiac hypertrophy.Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.Mechanisms of disease: hypertrophic cardiomyopathy.Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.Recent advances in genetics and treatment of hypertrophic cardiomyopathy.Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurtureTo screen or not is not the question--it is when and how to screen.Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.Looking into a whale's heart: investigating a genetic basis for cardiomyopathy in a non-model species.Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.
P2860
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P2860
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@en
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@nl
type
label
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@en
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@nl
prefLabel
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@en
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@nl
P2093
P1476
Spectrum of clinical phenotype ...... h hypertrophic cardiomyopathy.
@en
P2093
Maki-Abadi J
Regitz-Zagrosek V
P304
P356
10.1016/S0735-1097(01)01387-0
P407
P577
2001-08-01T00:00:00Z