1.
PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial
by Raal, Frederick J, Prof
The Lancet (British edition), 2015, Vol.385 (9965), p.331-340
2.
Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study
by Cuchel, Marina, Dr
The Lancet (British edition), 2013, Vol.381 (9860), p.40-46
3.
Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication
by Benn, Marianne
The journal of clinical endocrinology and metabolism, 2012-11, Vol.97 (11), p.3956-3964
4.
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial
by Raal, Frederick J, Prof
The Lancet (British edition), 2015, Vol.385 (9965), p.341-350
5.
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double...
by Raal, Frederick J, Prof
The Lancet (British edition), 2010, Vol.375 (9719), p.998-1006
6.
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
by Talmud, Philippa J, Prof
The Lancet (British edition), 2013, Vol.381 (9874), p.1293-1301
7.
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
by Grzymski, J J
Nature medicine, 2020-08, Vol.26 (8), p.1235-1239
8.
Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies
by Nherera, L
Heart (British Cardiac Society), 2011-07, Vol.97 (14), p.1175-1181
9.
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes
by Cenarro, Ana
The journal of clinical endocrinology and metabolism, 2016-05, Vol.101 (5), p.2113-2121
10.
Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
by O’Brien, Emily C., PhD
The American heart journal, 2014, Vol.167 (3), p.342-349.e17
11.
The effect of an apolipoprotein A-I-containing high-density lipoprotein-mimetic particle (CER-001) on carotid artery wall thickness in patients with homozygous familial hypercholes...
by Hovingh, G. Kees
The American heart journal, 2015, Vol.169 (5), p.736-742.e1
12.
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
by Futema, Marta
Journal of medical genetics, 2012-10, Vol.49 (10), p.644-649
13.
Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia
by Civeira, Fernando, MD, PhD
The American journal of cardiology, 2008, Vol.102 (9), p.1187-1193.e1
14.
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
by Humphries, S E
Journal of medical genetics, 2006-12, Vol.43 (12), p.943-949
15.
Cardiovascular risk stratification in familial hypercholesterolaemia
by Sharifi, Mahtab
Heart, 2016-07, Vol.102 (13), p.1003-1008
16.
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
by Futema, Marta
Journal of medical genetics, 2014-08, Vol.51 (8), p.537-544
17.
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
by Vandrovcova, Jana
Genetics in medicine, 2013-12, Vol.15 (12), p.948-957
18.
Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients
by Pérez-Calahorra, Sofia, RD, MSc
The American journal of cardiology, 2016, Vol.119 (5), p.742-748
19.
Adeno-Associated Virus Serotype 8 Gene Therapy Leads to Significant Lowering of Plasma Cholesterol Levels in Humanized Mouse Models of Homozygous and Heterozygous Familial Hypercho...
by Kassim, Sadik H
Human gene therapy, 2013-01-01, Vol.24 (1), p.19-26
20.
Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia
by Kolansky, Daniel M., MD
The American journal of cardiology, 2008, Vol.102 (11), p.1438-1443
