Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

AIMS: Current screening methods, such as single strand conformational polymorphism (SSCP) and denaturing high performance liquid chromatography (dHPLC) that are used for detecting mutations in familial hypercholesterolaemia (FH) subjects are time consuming, costly and only 80-90% sensitive. Here we...

Detaylı Bibliyografya
Asıl Yazarlar:	Whittall, R, Scartezini, M, Li, K, Hubbart, C, Reiner, Z, Abraha, A, Neil, H, Dedoussis, G, Humphries, SE
Materyal Türü:	Journal article
Dil:	English
Baskı/Yayın Bilgisi:	2010

Benzer Materyaller

Statins and familial hypercholesterolaemia.
Yazar:: Neil, A, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

DEVELOPMENT OF AN AFFORDABLE, SENSITIVE AND RAPID SCREENING METHOD FOR MUTATION DETECTION IN UK FH SUBJECTS
Yazar:: Scartezini, M, ve diğerleri
Baskı/Yayın Bilgisi: (2008)

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia.
Yazar:: Minhas, R, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Yazar:: Humphries, SE, ve diğerleri
Baskı/Yayın Bilgisi: (2006)

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
Yazar:: Futema, M, ve diğerleri
Baskı/Yayın Bilgisi: (2013)

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Yazar:: Futema, M, ve diğerleri
Baskı/Yayın Bilgisi: (2013)

The utility of DNA-based testing in patients with familial hypercholesterolaemia in the UK
Yazar:: Humphries, SE, ve diğerleri
Baskı/Yayın Bilgisi: (2005)

Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis.
Yazar:: Marks, D, ve diğerleri
Baskı/Yayın Bilgisi: (2000)

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men.
Yazar:: Scartezini, M, ve diğerleri
Baskı/Yayın Bilgisi: (2007)

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia.
Yazar:: Marks, D, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis.
Yazar:: Marks, ve diğerleri
Baskı/Yayın Bilgisi: (2000-01-01)

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Yazar:: Futema, M, ve diğerleri
Baskı/Yayın Bilgisi: (2014)

Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study.
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2000)

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia.
Yazar:: Marks, D, ve diğerleri
Baskı/Yayın Bilgisi: (2002)

Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes.
Yazar:: Marks, D, ve diğerleri
Baskı/Yayın Bilgisi: (2006)

Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002.
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2004)

Comparing costs and benefits over a 10 year period of strategies for familial hypercholesterolaemia screening.
Yazar:: Marks, D, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

Familial hypercholesterolaemia.
Yazar:: Gill, P, ve diğerleri
Baskı/Yayın Bilgisi: (2012)

Familial hypercholesterolaemia
Yazar:: D.J. Blom
Baskı/Yayın Bilgisi: (2011-01-01)

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia.
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2004)

Cost-effectiveness analysis of the use of a high-intensity statin compared to a low-intensity statin in the management of patients with familial hypercholesterolaemia.
Yazar:: Nherera, L, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

Cardiovascular Disease Risk Estimation in Mutation Confirmed Familial Hypercholesterolaemia
Yazar:: E. Ofagbor, ve diğerleri
Baskı/Yayın Bilgisi: (2023-12-01)

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
Yazar:: Talmud, P, ve diğerleri
Baskı/Yayın Bilgisi: (2013)

CURRENT STATIN TREATMENT OF PATIENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA (FH): RESULTS FROM THE ROYAL COLLEGE OF PHYSICIANS UK NATIONAL AUDIT
Yazar:: Seed, M, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia
Yazar:: Neil, A, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

EASILY MISSED? Familial hypercholesterolaemia
Yazar:: Gill, P, ve diğerleri
Baskı/Yayın Bilgisi: (2012)

Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study.
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

Non-coronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: a prospective registry study.
Yazar:: Neil, H, ve diğerleri
Baskı/Yayın Bilgisi: (2005)

NOVEL INFLAMMATORY RISK MARKERS INCLUDING LPPLA2 AND RISK OF CHD IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA (FH)
Yazar:: Seed, M, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

NOVEL INFLAMMATORY RISK MARKERS INCLUDING LPPLA2 AND RISK OF CHD IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA (FH)
Yazar:: Seed, M, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Yazar:: Talmud, P, ve diğerleri
Baskı/Yayın Bilgisi: (2013)

How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition?
Yazar:: S.E. Humphries, ve diğerleri
Baskı/Yayın Bilgisi: (2023-12-01)

Familial Hypercholesterolaemia: An Updated Overall Management
Yazar:: Mohd Kasim, Noor Alicezah, ve diğerleri
Baskı/Yayın Bilgisi: (2020)

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study.
Yazar:: Neil, A, ve diğerleri
Baskı/Yayın Bilgisi: (2008)

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Yazar:: Vallejo-Vaz, Antonio J., ve diğerleri
Baskı/Yayın Bilgisi: (2020)

Modelling a two-stage screen for autosomal dominant familial hypercholesterolaemia (FH) in UK Biobank
Yazar:: J. Gratton, ve diğerleri
Baskı/Yayın Bilgisi: (2022-10-01)

Simplifying the detection of <it>MUTYH </it>mutations by high resolution melting analysis
Yazar:: López-Villar Isabel, ve diğerleri
Baskı/Yayın Bilgisi: (2010-08-01)

Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis
Yazar:: A. Rimbert, ve diğerleri
Baskı/Yayın Bilgisi: (2021-09-01)

Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank
Yazar:: J. Gratton, ve diğerleri
Baskı/Yayın Bilgisi: (2023-12-01)