Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Manylion Llyfryddiaeth
Prif Awduron:	Blair, E, Redwood, C, Watkins, H
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2003

Eitemau Tebyg

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
gan: Blair, E, et al.
Cyhoeddwyd: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
gan: Blair, E, et al.
Cyhoeddwyd: (2000)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
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Cyhoeddwyd: (2003)

A Genotype-phenotype Taxonomy of Hypertrophic Cardiomyopathy
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Cyhoeddwyd: (2024-01-01)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
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Cyhoeddwyd: (2003)

Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype‐Phenotype Association
gan: Minh B. Nguyen, et al.
Cyhoeddwyd: (2022-03-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
gan: Carballo, S, et al.
Cyhoeddwyd: (2004)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
gan: Elliott, K, et al.
Cyhoeddwyd: (2000)

Linked genetic modifiers in hypertrophic cardiomyopathy
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Cyhoeddwyd: (2004)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
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Cyhoeddwyd: (2001)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
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Cyhoeddwyd: (2002)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
gan: Carballo, S, et al.
Cyhoeddwyd: (2003)

Sudden death in hypertrophic cardiomyopathy.
gan: Watkins, H
Cyhoeddwyd: (2000)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
gan: Elliott, K, et al.
Cyhoeddwyd: (2000)

Correlates of myocardial fibrosis in hypertrophic cardiomyopathy
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Cyhoeddwyd: (2018)

Myocardial dysfunction in hypertrophic cardiomyopathy.
gan: Ashrafian, H, et al.
Cyhoeddwyd: (2001)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
gan: Carballo, S, et al.
Cyhoeddwyd: (2005)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
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Cyhoeddwyd: (2005)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
gan: Blair, E, et al.
Cyhoeddwyd: (2002)

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
gan: Blair, E, et al.
Cyhoeddwyd: (2001)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
gan: Robinson, P, et al.
Cyhoeddwyd: (2002)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
gan: Wordsworth, S, et al.
Cyhoeddwyd: (2006)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
gan: Carballo, S, et al.
Cyhoeddwyd: (2005)

Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype
gan: Juan Pablo Kaski, et al.
Cyhoeddwyd: (2012-10-01)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
gan: Ashrafian, H, et al.
Cyhoeddwyd: (2005)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
gan: Carballo, S, et al.
Cyhoeddwyd: (2005)

Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy
gan: Jing Wang, et al.
Cyhoeddwyd: (2024-06-01)

Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype
gan: Jassal Davinder S, et al.
Cyhoeddwyd: (2008-12-01)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
gan: Robinson, P, et al.
Cyhoeddwyd: (2007)

The genetics of hypertrophic cardiomyopathy: Teare redux.
gan: Watkins, H, et al.
Cyhoeddwyd: (2008)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
gan: Hudsmith, L, et al.
Cyhoeddwyd: (2006)

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
gan: Lazar Velicki, et al.
Cyhoeddwyd: (2020-12-01)

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
gan: Zeyi Cheng, et al.
Cyhoeddwyd: (2021-10-01)

A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
gan: Burton, D, et al.
Cyhoeddwyd: (2000)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
gan: Wordsworth, S, et al.
Cyhoeddwyd: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
gan: Wordsworth, S, et al.
Cyhoeddwyd: (2010)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
gan: Watkins, H
Cyhoeddwyd: (2003)

[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
gan: Borovikov, I, et al.
Cyhoeddwyd: (2013)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
gan: Toepfer, C, et al.
Cyhoeddwyd: (2019)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
gan: Burton, D, et al.
Cyhoeddwyd: (2000)