4.5 Article

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

Sarah Leigh et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Biochemistry & Molecular Biology

Validation of copy number variation analysis for next-generation sequencing diagnostics

Jamie M. Ellingford et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Michael A. Iacocca et al.

JOURNAL OF LIPID RESEARCH (2017)

Article Cardiac & Cardiovascular Systems

Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia

Oriane Marmontel et al.

ATHEROSCLEROSIS (2017)

Article Peripheral Vascular Disease

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Angela Pirillo et al.

ATHEROSCLEROSIS SUPPLEMENTS (2017)

Article Peripheral Vascular Disease

Diagnostic algorithm for familial chylomicronemia syndrome

Erik Stroes et al.

ATHEROSCLEROSIS SUPPLEMENTS (2017)

Article Hematology

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

Jian Wang et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Itziar Lamiquiz-Moneo et al.

LIPIDS IN HEALTH AND DISEASE (2016)

Article Cardiac & Cardiovascular Systems

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

Claudio Rabacchi et al.

ATHEROSCLEROSIS (2015)

Review Biochemistry & Molecular Biology

Targeted next-generation sequencing in monogenic dyslipidemias

Robert A. Hegele et al.

CURRENT OPINION IN LIPIDOLOGY (2015)

Review Endocrinology & Metabolism

Chylomicronaemia-current diagnosis and future therapies

Amanda J. Brahm et al.

NATURE REVIEWS ENDOCRINOLOGY (2015)

Article Biochemistry & Molecular Biology

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

Ana Catarina Alves et al.

HUMAN MOLECULAR GENETICS (2014)

Article Biochemistry & Molecular Biology

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

Christopher T. Johansen et al.

JOURNAL OF LIPID RESEARCH (2014)

Article Biochemistry & Molecular Biology

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Ilenia Minicocci et al.

JOURNAL OF LIPID RESEARCH (2013)

Article Hematology

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Davide Noto et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2012)

Article Cardiac & Cardiovascular Systems

Genetic analysis of familial hypercholesterolaemia in Western Australia

Amanda J. Hooper et al.

ATHEROSCLEROSIS (2012)

Article Cardiac & Cardiovascular Systems

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

Mohammad Mahdi Motazacker et al.

EUROPEAN HEART JOURNAL (2012)

Article Medicine, General & Internal

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

R. P. Surendran et al.

JOURNAL OF INTERNAL MEDICINE (2012)

Article Genetics & Heredity

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel et al.

HUMAN MUTATION (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Medicine, General & Internal

Polymorphisms associated with cholesterol and risk of cardiovascular events

Sekar Kathiresan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Medicine, General & Internal

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

JC Cohen et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Article Biochemical Research Methods

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

G Yeo et al.

JOURNAL OF COMPUTATIONAL BIOLOGY (2004)

Review Medical Laboratory Technology

Lipid disorders and mutations in the APOB gene

AJ Whitfield et al.

CLINICAL CHEMISTRY (2004)

Article Genetics & Heredity

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

M Abifadel et al.

NATURE GENETICS (2003)

Article Hematology

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia

JP Rabès et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2000)