Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Blair, E, Redwood, C, Watkins, H
التنسيق:	Journal article
اللغة:	English
منشور في:	2003

مواد مشابهة

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
حسب: Blair, E, وآخرون
منشور في: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
حسب: Blair, E, وآخرون
منشور في: (2000)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
حسب: Ashrafian, H, وآخرون
منشور في: (2003)

A Genotype-phenotype Taxonomy of Hypertrophic Cardiomyopathy
حسب: Lara Curran, BSc, وآخرون
منشور في: (2024-01-01)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
حسب: Redwood, C, وآخرون
منشور في: (2003)

Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype‐Phenotype Association
حسب: Minh B. Nguyen, وآخرون
منشور في: (2022-03-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
حسب: Carballo, S, وآخرون
منشور في: (2004)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
حسب: Elliott, K, وآخرون
منشور في: (2000)

Linked genetic modifiers in hypertrophic cardiomyopathy
حسب: Ektisham, J, وآخرون
منشور في: (2004)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
حسب: Abdulrazzak, H, وآخرون
منشور في: (2001)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
حسب: Burton, D, وآخرون
منشور في: (2002)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
حسب: Carballo, S, وآخرون
منشور في: (2003)

Sudden death in hypertrophic cardiomyopathy.
حسب: Watkins, H
منشور في: (2000)

Correlates of myocardial fibrosis in hypertrophic cardiomyopathy
حسب: Kramer, CM, وآخرون
منشور في: (2018)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
حسب: Elliott, K, وآخرون
منشور في: (2000)

Myocardial dysfunction in hypertrophic cardiomyopathy.
حسب: Ashrafian, H, وآخرون
منشور في: (2001)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
حسب: Carballo, S, وآخرون
منشور في: (2005)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
حسب: Grignani, R, وآخرون
منشور في: (2005)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
حسب: Blair, E, وآخرون
منشور في: (2002)

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
حسب: Blair, E, وآخرون
منشور في: (2001)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
حسب: Robinson, P, وآخرون
منشور في: (2002)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
حسب: Wordsworth, S, وآخرون
منشور في: (2006)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
حسب: Carballo, S, وآخرون
منشور في: (2005)

Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype
حسب: Juan Pablo Kaski, وآخرون
منشور في: (2012-10-01)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
حسب: Ashrafian, H, وآخرون
منشور في: (2005)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
حسب: Carballo, S, وآخرون
منشور في: (2005)

Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy
حسب: Jing Wang, وآخرون
منشور في: (2024-06-01)

Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype
حسب: Jassal Davinder S, وآخرون
منشور في: (2008-12-01)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
حسب: Robinson, P, وآخرون
منشور في: (2007)

The genetics of hypertrophic cardiomyopathy: Teare redux.
حسب: Watkins, H, وآخرون
منشور في: (2008)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
حسب: Hudsmith, L, وآخرون
منشور في: (2006)

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
حسب: Lazar Velicki, وآخرون
منشور في: (2020-12-01)

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
حسب: Zeyi Cheng, وآخرون
منشور في: (2021-10-01)

A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
حسب: Burton, D, وآخرون
منشور في: (2000)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
حسب: Wordsworth, S, وآخرون
منشور في: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
حسب: Wordsworth, S, وآخرون
منشور في: (2010)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
حسب: Watkins, H
منشور في: (2003)

[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
حسب: Borovikov, I, وآخرون
منشور في: (2013)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
حسب: Toepfer, C, وآخرون
منشور في: (2019)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
حسب: Burton, D, وآخرون
منشور في: (2000)