Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

(2018) Rossella Spina et al.   Journal of Clinical Lipidology

The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred

(2018) Eliot A. Brinton et al.   Journal of Clinical Lipidology

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina

(2017) Virginia G. Bañares et al.   Journal of Clinical Lipidology

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

(2017) Almudena Amor-Salamanca et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

(2016) Thomas Grenkowitz et al.   ATHEROSCLEROSIS

Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study

(2016) Frederick J. Raal et al.   ATHEROSCLEROSIS

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

(2016) Barbara Sjouke et al.   ATHEROSCLEROSIS

Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE

(2016) Rosa M. Sánchez-Hernández et al.   Circulation-Cardiovascular Genetics

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

(2016) Marianne Benn et al.   EUROPEAN HEART JOURNAL

Genetic diagnosis of familial hypercholesterolemia in Han Chinese

(2016) Kuan-Rau Chiou et al.   Journal of Clinical Lipidology

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease

(2016) Barbara Sjouke et al.   Journal of Clinical Lipidology

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

(2016) Sarah Leigh et al.   JOURNAL OF MEDICAL GENETICS

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

(2016) Mahtab Sharifi et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE

(2016) Rosa M. Sánchez-Hernández et al.   Circulation-Cardiovascular Genetics

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

(2016) Raul D Santos et al.   Lancet Diabetes & Endocrinology

Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia – A study supported by Korean Society of Lipidology and Atherosclerosis

(2015) Manjae Kwon et al.   ATHEROSCLEROSIS

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

(2015) Cinthia E. Jannes et al.   ATHEROSCLEROSIS

The distribution and characteristics of LDL receptor mutations in China: A systematic review

(2015) Long Jiang et al.   Scientific Reports

Familial Hypercholesterolemia in Greek children and their families: Genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum

(2014) Vasiliki Mollaki et al.   ATHEROSCLEROSIS

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia

(2014) Paulo Caleb Junior Lima Santos et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia

(2013) Say-Hean Lye et al.   PLoS One

The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

(2012) Lukáš Tichý et al.   ATHEROSCLEROSIS

Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China

(2012) Kuan-Rau Chiou et al.   GENE

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

(2012) Marie Marduel et al.   HUMAN MUTATION

Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases

(2012) Miao Hu et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

(2011) Anne C. Goldberg et al.   Journal of Clinical Lipidology

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

Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

(2009) Mireia Junyent et al.   ATHEROSCLEROSIS

Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors

(2008) R. Alonso et al.   ATHEROSCLEROSIS