Disease: Hypercholesterolemia- autosomal dominant- type B
- <em>APOE</em> Molecular Spectrum in a French Cohort with Primary Dyslipidemia
- A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia
- Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia
- Atherosclerosis progression in patients with autosomal dominant hypercholesterolemia in clinical practice
- Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
- Biochemical and Anthropometric Outcomes in Paediatric Patients with Heterozygous Familial Hypercholesterolemia after COVID-19 Pandemic Lockdowns: An Exploratory Analysis
- Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia
- Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
- Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia
- Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia
- Congenital disorders of lipoprotein metabolism
- Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes
- Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
- Design, synthesis, and biological evaluation of novel tetrahydroprotoberberine derivatives (THPBs) as proprotein convertase subtilisin/kexin type 9 (PCSK9) modulators for the treatment of hyperlipidemia
- Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry
- Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease
- Early echocardiographic signs of cardiovascular affection in pediatric familial hypercholesterolemia
- Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)
- Efficacy and Safety of Alirocumab in Patients With Autosomal Dominant Hypercholesterolemia Associated With Proprotein Convertase Subtilisin/Kexin Type 9 Gain-of-Function or Apolipoprotein B Loss-of-Function Mutations
- Establishing a familial hypercholesterolaemia register - The first year
- Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis
- Evaluation of the role of STAP1 in Familial Hypercholesterolemia
- Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia
- Familial Combined Hyperlipidemia
- Familial defective apolipoprotein B-100: A review
- Familial hypercholesterolemia in Southeast and East Asia
- Familial hypercholesterolemia--epidemiology, diagnosis, and screening
- Familial Hypercholesterolemia: A Literature Review of the Pathophysiology and Current and Novel Treatments
- Familial hypercholesterolemia: Detect, treat, and ask about family
- Familial hypercholesterolemia: epidemiology, genetics, diagnosis, and screening
- Familial Hypercholesterolemia: Genes and Beyond
- Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family
- Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis
- Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
- Gene therapy for rhesus monkeys heterozygous for LDL receptor deficiency by balloon catheter hepatic delivery of helper-dependent adenoviral vector
- Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report
- Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
- Genetic Architecture of Familial Hypercholesterolaemia
- Genetic diagnosis of familial hypercholesterolemia in Han Chinese
- Genetic testing for familial hypercholesterolemia-past, present, and future
- Genetic testing of familial hypercholesterolemia in a real clinical setting
- Genetics and Dyslipidemia
- Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France
- Hematological Inflammatory Markers in Patients with Clinically Confirmed Familial Hypercholesterolemia
- Heterozygous familial hypercholesterolemia
- High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia
- Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives
- Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years
- Homozygous familial hypercholesterolaemia: update on management
- Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
- Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel
- Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan
- Identification of two novel LDLR variants by Next Generation Sequencing
- Impact of rare variants in autosomal dominant hypercholesterolemia causing genes
- Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia
- Mice lacking global Stap1 expression do not manifest hypercholesterolemia
- Mipomersen in Familial Hypercholesterolemia: An Update on Health-Related Quality of Life and Patient-Reported Outcomes
- Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic
- Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
- Molecular genetics of familial hypercholesterolemia in Israel-revisited
- Monozygotic twins with familial hypercholesterolemia and high lipoprotein(a) levels leading to identical cardiovascular outcomes: Case report and review of the literature
- Multiplex Protein Biomarker Profiling in Patients with Familial Hypercholesterolemia
- Mutation detection in Chinese patients with familial hypercholesterolemia
- Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia
- Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry
- Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement
- Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
- Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia
- New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial Hypercholesterolaemia
- New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
- Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease
- Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population
- Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants
- Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
- Prevalence, clinical features and prognosis of familial hypercholesterolemia in Chinese Han patients with acute coronary syndrome after a coronary event: a retrospective observational study
- Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report
- Proprotein convertase subtilisin/kexin type 9 inhibition: a new therapeutic mechanism for reducing cardiovascular disease risk
- Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries
- Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia: A Register Study From Norway
- Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014)
- Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia
- Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)
- Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia
- Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study
- Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
- Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity
- Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia
- Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland
- The atherogenic role of immune cells in familial hypercholesterolemia
- The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype
- The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population
- The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
- The genetic spectrum of familial hypercholesterolemia in the central south region of China
- The genetics and screening of familial hypercholesterolaemia
- The genetics of familial hypercholesterolemia and emerging therapies
- The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification
- The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes
- Therapeutic Options for Homozygous Familial Hypercholesterolemia: The Role of Lomitapide
- Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan
- Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia