Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
about
Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemiaUse of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemiaExome sequencing in suspected monogenic dyslipidemias.Imputation of coding variants in African Americans: better performance using data from the exome sequencing projectExome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.Clinical utility gene card for: hyperlipoproteinemia, TYPE II.Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsIdentification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.Association studies with imputed variants using expectation-maximization likelihood-ratio tests.Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarctionTruncation of POC1A associated with short stature and extreme insulin resistanceThe genetic spectrum of familial hypercholesterolemia in south-eastern Poland.Toward clinical genomics in everyday medicine: perspectives and recommendationsAnalysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
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P2860
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@ast
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@en
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@nl
type
label
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@ast
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@en
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@nl
prefLabel
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@ast
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@en
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@nl
P2860
P50
P3181
P1476
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
@en
P2093
H Andrew W Neil
Ros A Whittall
P2860
P3181
P356
10.1136/JMEDGENET-2012-101189
P407
P577
2012-10-01T00:00:00Z