A novel custom resequencing array for dilated cardiomyopathy - Wikidata - wikimedia - TriplyDB

A novel custom resequencing array for dilated cardiomyopathy

A novel custom resequencing array for dilated cardiomyopathy

http://www.wikidata.org/entity/Q24602132

about

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Truncations of titin causing dilated cardiomyopathy.A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.The 'thousand-dollar genome': an ethical exploration.Impact of Mendelian inheritance in cardiovascular disease.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.Genetic testing for dilated cardiomyopathy in clinical practice.Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.Next-generation carrier screening Genetic profiling for risk reduction in human cardiovascular disease.Desmin-related myopathy.New clinical molecular diagnostic methods for congenital and inherited heart disease.A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.Mutations in Alström protein impair terminal differentiation of cardiomyocytes Targeted sequencing using Affymetrix CustomSeq Arrays.Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.Exploring the Crosstalk Between and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy

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P2860

A novel custom resequencing array for dilated cardiomyopathy

http://www.wikidata.org/entity/Q24602132

description

2010 nî lūn-bûn

@nan

2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

A novel custom resequencing array for dilated cardiomyopathy

@ast

A novel custom resequencing array for dilated cardiomyopathy

@en

A novel custom resequencing array for dilated cardiomyopathy

@nl

type

label

A novel custom resequencing array for dilated cardiomyopathy

@ast

A novel custom resequencing array for dilated cardiomyopathy

@en

A novel custom resequencing array for dilated cardiomyopathy

@nl

prefLabel

A novel custom resequencing array for dilated cardiomyopathy

@ast

A novel custom resequencing array for dilated cardiomyopathy

@en

A novel custom resequencing array for dilated cardiomyopathy

@nl

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Genetics in Medicine

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A novel custom resequencing array for dilated cardiomyopathy

@en

P2093

Allison Cirino

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Annette Leon

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Birgit H Funke

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Christine E Seidman

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Debora Mancini-DiNardo

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Elizabeth Duffy

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Emily White

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Eugene Clark

http://www.w3.org/2001/XMLSchema#string

Jonathan G Seidman

http://www.w3.org/2001/XMLSchema#string

Lisa Farwell

http://www.w3.org/2001/XMLSchema#string

P2860

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

High-throughput variation detection and genotyping using microarrays

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

Microarray-based resequencing of multiple Bacillus anthracis isolates

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