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

Bibliografische gegevens
Hoofdauteurs:	Thistleton, J, Thomson, K, Wilson, M, Livesey, K, McKinney, J, Blair, E, Watkins, H, Seller, A
Formaat:	Conference item
Gepubliceerd in:	2007

Gelijkaardige items

Oxford Molecular Genetics Laboratory Cardiomyopathy Service
door: Thistleton, J, et al.
Gepubliceerd in: (2006)

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

Evaluation of Clinical Diagnostic Potential of Next Generation Sequencing using Hypertrophic Cardiomyopathy as a Model
door: Taylor, J, et al.
Gepubliceerd in: (2010)

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

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

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

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
door: Suttie, J, et al.
Gepubliceerd in: (2011)

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

Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
door: Rayner, JJ, et al.
Gepubliceerd in: (2020)

Hypertrophic, Dilated, and Arrhythmogenic Cardiomyopathy: Where Are We?
door: Hamza El Hadi, et al.
Gepubliceerd in: (2023-02-01)

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy
door: Seitaro Nomura, et al.
Gepubliceerd in: (2023-03-01)

MicroRNAs in Hypertrophic, Arrhythmogenic and Dilated Cardiomyopathy
door: Enrica Chiti, et al.
Gepubliceerd in: (2021-09-01)

Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies
door: Gehan Abd El-Rahman El-Zarea, et al.
Gepubliceerd in: (2016-02-01)

Dilated cardiomyopathy and the desmin gene.
door: Mayosi, B, et al.
Gepubliceerd in: (2000)

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
door: Megan J. Puckelwartz, et al.
Gepubliceerd in: (2021-04-01)

Linked genetic modifiers in hypertrophic cardiomyopathy
door: Ektisham, J, et al.
Gepubliceerd in: (2004)

Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing
door: Reid, S, et al.
Gepubliceerd in: (2011)

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

Mutant Allele Amplification Bias Using Rapid Cycle-Real Time PCR and Hi-Res Melting® with LunaProbes™ on the LightScanner® 32
door: Idaho Technology Inc.
Gepubliceerd in: (2008-11-01)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
door: Blair, E, et al.
Gepubliceerd in: (2003)

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.
door: Ashrafian, H, et al.
Gepubliceerd in: (2007)

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

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
door: Paradossi Umberto, et al.
Gepubliceerd in: (2008-12-01)

Sudden death in hypertrophic cardiomyopathy.
door: Watkins, H
Gepubliceerd in: (2000)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
door: Ashrafian, H, et al.
Gepubliceerd in: (2003)

Myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy.
door: Dass, S, et al.
Gepubliceerd in: (2012)

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses
door: Toshiki Kuno, et al.
Gepubliceerd in: (2017-01-01)

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

Myocardial dysfunction in hypertrophic cardiomyopathy.
door: Ashrafian, H, et al.
Gepubliceerd in: (2001)

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

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

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

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
door: Tadros, R, et al.
Gepubliceerd in: (2021)

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

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

Non-contrast T1 mapping characterizes the myocardium beyond that achieved by late gadolinium enhancement in both hypertrophic and dilated cardiomyopathy.
door: Dass, S, et al.
Gepubliceerd in: (2012)

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

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

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
door: Carballo, S, et al.
Gepubliceerd in: (2004)

Impact of angiotensin I converting enzyme insertion/deletion polymorphisms on dilated cardiomyopathy and hypertrophic cardiomyopathy risk.
door: Jianmin Yang, et al.
Gepubliceerd in: (2013-01-01)