Genetic testing for dilated cardiomyopathy in clinical practice. - Wikidata - awgldk - TriplyDB

Genetic testing for dilated cardiomyopathy in clinical practice.

Genetic testing for dilated cardiomyopathy in clinical practice.

http://www.wikidata.org/entity/Q36882310

about

The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics.LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes GENETIC CAUSES OF DILATED CARDIOMYOPATHY.Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression.Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.Genetics and heart failure: a concise guide for the clinician Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.Localization of the binding interface between leiomodin-2 and α-tropomyosin.Genetics and genetic testing of dilated cardiomyopathy: a new perspective.Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.Insights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.Hypertrophic and dilated cardiomyopathy: four decades of basic research on muscle lead to potential therapeutic approaches to these devastating genetic diseases.Genetic testing in the contemporary diagnosis of cardiomyopathy.Genetic evaluation of dilated cardiomyopathy.Genetics in dilated cardiomyopathy.Alpha-tropomyosin mutations in inherited cardiomyopathies.A comparison of genetic findings in sudden cardiac death victims and cardiac patients: the importance of phenotypic classification.The cardiomyopathy-associated K15N mutation in tropomyosin alters actin filament pointed end dynamics.Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.Using genetic testing to guide therapeutic decisions in cardiomyopathy.Familial dilated cardiomyopathy. Clinical and genetic characteristics.Phenotype-driven molecular autopsy for sudden cardiac death.A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.Structural destabilization of tropomyosin induced by the cardiomyopathy-linked mutation R21H.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.Dilated cardiomyopathy due to a phospholamban duplication.

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P2860

Genetic testing for dilated cardiomyopathy in clinical practice.

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Genetic testing for dilated cardiomyopathy in clinical practice.

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Genetic testing for dilated cardiomyopathy in clinical practice.

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Genetic testing for dilated cardiomyopathy in clinical practice.

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J.CARDFAIL.2012.01.013

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Journal of Cardiac Failure

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Genetic testing for dilated cardiomyopathy in clinical practice.

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Allison L Cirino

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Amy E Roberts

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Apostolos Psychogios

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Birgit H Funke

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Carolyn Jones

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Chantal Morel

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Christine E Seidman

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Daniel P Judge

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Elizabeth Duffy

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Emily White

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P2860

A novel custom resequencing array for dilated cardiomyopathy

A map of human genome variation from population-scale sequencing

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy

Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and F

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.

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296-303

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10.1016/J.CARDFAIL.2012.01.013

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