A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the Lightscanner

A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the Lightscanner

Podrobná bibliografie
Hlavní autoři:	Thistleton, J, Thomson, K, Wilson, M, Livesey, K, McKinney, J, Blair, E, Watkins, H, Seller, A
Médium:	Conference item
Vydáno:	2007

Podobné jednotky

Oxford Molecular Genetics Laboratory Cardiomyopathy Service
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Is DNA testing for hypertrophic cardiomyopathy cost-effective?
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
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Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
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Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
Autor: Suttie, J, a další
Vydáno: (2011)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
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Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies
Autor: Gehan Abd El-Rahman El-Zarea, a další
Vydáno: (2016-02-01)

Dilated cardiomyopathy and the desmin gene.
Autor: Mayosi, B, a další
Vydáno: (2000)

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Autor: Megan J. Puckelwartz, a další
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Linked genetic modifiers in hypertrophic cardiomyopathy
Autor: Ektisham, J, a další
Vydáno: (2004)

Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing
Autor: Reid, S, a další
Vydáno: (2011)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
Autor: Robinson, P, a další
Vydáno: (2002)

Mutant Allele Amplification Bias Using Rapid Cycle-Real Time PCR and Hi-Res Melting® with LunaProbes™ on the LightScanner® 32
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Vydáno: (2008-11-01)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
Autor: Blair, E, a další
Vydáno: (2003)

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.
Autor: Ashrafian, H, a další
Vydáno: (2007)

[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
Autor: Borovikov, I, a další
Vydáno: (2013)

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
Autor: Paradossi Umberto, a další
Vydáno: (2008-12-01)

Sudden death in hypertrophic cardiomyopathy.
Autor: Watkins, H
Vydáno: (2000)

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

Myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy.
Autor: Dass, S, a další
Vydáno: (2012)

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses
Autor: Toshiki Kuno, a další
Vydáno: (2017-01-01)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
Autor: Carballo, S, a další
Vydáno: (2003)

Myocardial dysfunction in hypertrophic cardiomyopathy.
Autor: Ashrafian, H, a další
Vydáno: (2001)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
Autor: Hudsmith, L, a další
Vydáno: (2006)

The role of cardiac energy metabolism and during stress in hypertrophic and dilated cardiomyopathy.
Autor: Dass, S
Vydáno: (2012)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
Autor: Carballo, S, a další
Vydáno: (2005)

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Autor: Tadros, R, a další
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Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
Autor: Ashrafian, H, a další
Vydáno: (2005)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
Autor: Carballo, S, a další
Vydáno: (2005)

Non-contrast T1 mapping characterizes the myocardium beyond that achieved by late gadolinium enhancement in both hypertrophic and dilated cardiomyopathy.
Autor: Dass, S, a další
Vydáno: (2012)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
Autor: Robinson, P, a další
Vydáno: (2007)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
Autor: Blair, E, a další
Vydáno: (2000)

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
Autor: Carballo, S, a další
Vydáno: (2004)

Impact of angiotensin I converting enzyme insertion/deletion polymorphisms on dilated cardiomyopathy and hypertrophic cardiomyopathy risk.
Autor: Jianmin Yang, a další
Vydáno: (2013-01-01)