Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

ग्रंथसूची विवरण
मुख्य लेखकों:	Blair, E, Redwood, C, Watkins, H
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2003

समान संसाधन

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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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
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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
द्वारा: Redwood, C, और अन्य
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Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype‐Phenotype Association
द्वारा: Minh B. Nguyen, और अन्य
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A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
द्वारा: Carballo, S, और अन्य
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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
द्वारा: Elliott, K, और अन्य
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Linked genetic modifiers in hypertrophic cardiomyopathy
द्वारा: Ektisham, J, और अन्य
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Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
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Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
द्वारा: Carballo, S, और अन्य
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Sudden death in hypertrophic cardiomyopathy.
द्वारा: Watkins, H
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Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
द्वारा: Elliott, K, और अन्य
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Correlates of myocardial fibrosis in hypertrophic cardiomyopathy
द्वारा: Kramer, CM, और अन्य
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Myocardial dysfunction in hypertrophic cardiomyopathy.
द्वारा: Ashrafian, H, और अन्य
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Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
द्वारा: Carballo, S, और अन्य
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Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
द्वारा: Grignani, R, और अन्य
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Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
द्वारा: Blair, E, और अन्य
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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
द्वारा: Blair, E, और अन्य
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Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
द्वारा: Robinson, P, और अन्य
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Is DNA testing for hypertrophic cardiomyopathy cost-effective?
द्वारा: Wordsworth, S, और अन्य
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Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
द्वारा: Carballo, S, और अन्य
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Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype
द्वारा: Juan Pablo Kaski, और अन्य
प्रकाशित: (2012-10-01)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
द्वारा: Ashrafian, H, और अन्य
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
द्वारा: Carballo, S, और अन्य
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Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.
द्वारा: Robert J H Miller, और अन्य
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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.
द्वारा: Robinson, P, और अन्य
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Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy
द्वारा: Jing Wang, और अन्य
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Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype
द्वारा: Jassal Davinder S, और अन्य
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The genetics of hypertrophic cardiomyopathy: Teare redux.
द्वारा: Watkins, H, और अन्य
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Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
द्वारा: Hudsmith, L, और अन्य
प्रकाशित: (2006)

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
द्वारा: Lazar Velicki, और अन्य
प्रकाशित: (2020-12-01)

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
द्वारा: Zeyi Cheng, और अन्य
प्रकाशित: (2021-10-01)

A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
द्वारा: Burton, D, और अन्य
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
द्वारा: Wordsworth, S, और अन्य
प्रकाशित: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
द्वारा: Wordsworth, S, और अन्य
प्रकाशित: (2010)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
द्वारा: Watkins, H
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[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
द्वारा: Borovikov, I, और अन्य
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Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
द्वारा: Toepfer, C, और अन्य
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