Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Xehetasun bibliografikoak
Egile Nagusiak:	Blair, E, Redwood, C, Watkins, H
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2003

Antzeko izenburuak

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
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Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
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A Genotype-phenotype Taxonomy of Hypertrophic Cardiomyopathy
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Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
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A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
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Sudden death in hypertrophic cardiomyopathy.
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Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
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Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
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Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
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Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
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Is DNA testing for hypertrophic cardiomyopathy cost-effective?
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Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
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Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.
nork: Robert J H Miller, et al.
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Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
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Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy
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The genetics of hypertrophic cardiomyopathy: Teare redux.
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Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
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Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
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Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
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A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
nork: Wordsworth, S, et al.
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
nork: Wordsworth, S, et al.
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Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
nork: Watkins, H
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[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
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Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
nork: Toepfer, C, et al.
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