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

Xehetasun bibliografikoak
Egile Nagusiak:	Thistleton, J, Thomson, K, Wilson, M, Livesey, K, McKinney, J, Blair, E, Watkins, H, Seller, A
Formatua:	Conference item
Argitaratua:	2007

Antzeko izenburuak

Oxford Molecular Genetics Laboratory Cardiomyopathy Service
nork: Thistleton, J, et al.
Argitaratua: (2006)

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

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

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

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

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

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

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

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

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

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

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

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

Dilated cardiomyopathy and the desmin gene.
nork: Mayosi, B, et al.
Argitaratua: (2000)

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

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

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

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

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

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

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

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

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

Sudden death in hypertrophic cardiomyopathy.
nork: Watkins, H
Argitaratua: (2000)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
nork: Ashrafian, H, et al.
Argitaratua: (2003)

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

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

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

Myocardial dysfunction in hypertrophic cardiomyopathy.
nork: Ashrafian, H, et al.
Argitaratua: (2001)

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

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

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

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

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

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

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

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

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

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

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