Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
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Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus).Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy.Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Long-term clinical and echocardiographic outcomes of extensive septal myectomy for hypertrophic obstructive cardiomyopathy in Chinese patientsTargeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathyFischer-344 Tp53-knockout rats exhibit a high rate of bone and brain neoplasia with frequent metastasis.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Genetics of hypertrophic cardiomyopathy: A review of current state.Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.Cardiopulmonary exercise test and sudden cardiac death risk in hypertrophic cardiomyopathy.A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.Role of quantitative myocardial positron emission tomography for risk stratification in patients with hypertrophic cardiomyopathy: a 2016 reappraisal.Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy.Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios.Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.The evolving role of ankyrin-B in cardiovascular disease.Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.The PRKAG2 gene and hypertrophic cardiomyopathy: an energetically imbalanced relationship.Implementing genome-driven personalized cardiology in clinical practice.Clinical implications of nonsarcomeric gene polymorphisms in hypertrophic cardiomyopathy.Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)The genetics of hypertrophic cardiomyopathyFollow-up and prognosis of HCMHeterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
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Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@ast
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@en
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@nl
type
label
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@ast
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@en
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@nl
prefLabel
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@ast
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@en
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@nl
P2093
P2860
P50
P1433
P1476
Novel genotype-phenotype assoc ...... th hypertrophic cardiomyopathy
@en
P2093
Chrysoula Dalageorgou
Hak Chiaw Tang
Mike Hubank
Oliver P Guttmann
Sharon Jenkins
P2860
P304
P356
10.1136/HEARTJNL-2014-306387
P407
P50
P577
2014-10-28T00:00:00Z