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

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema et al.   ATHEROSCLEROSIS

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

(2012) Marianne Abifadel et al.   ATHEROSCLEROSIS

Genetic analysis of familial hypercholesterolaemia in Western Australia

(2012) Amanda J. Hooper et al.   ATHEROSCLEROSIS

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

(2012) Mohammad Mahdi Motazacker et al.   EUROPEAN HEART JOURNAL

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

(2012) Marie Marduel et al.   HUMAN MUTATION

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

(2012) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

(2012) Geneviève Michils et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ESC/EAS Guidelines for the management of dyslipidaemias

(2011) Alberico L. Catapano et al.   ATHEROSCLEROSIS

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

(2011) D. M. Kusters et al.   Netherlands Heart Journal

Update of the Portuguese Familial Hypercholesterolaemia Study

(2010) A.M. Medeiros et al.   ATHEROSCLEROSIS

A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping

(2010) Simon M. Lank et al.   HUMAN IMMUNOLOGY

Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India

(2010) Anshika Srivastava et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Molecular structure of low density lipoprotein: current status and future challenges

(2008) Ruth Prassl et al.   EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS

Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance

(2008) Zhih-Cherng Chen et al.   JOURNAL OF HUMAN GENETICS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Familial hypercholesterolaemia in Portugal

(2007) M. Bourbon et al.   ATHEROSCLEROSIS