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Joep C Defesche Selected Research

Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)

1/2022Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia.
1/2021Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.
1/2021Next-generation sequencing to confirm clinical familial hypercholesterolemia.
1/2021Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
11/2020Differential DNA methylation in familial hypercholesterolemia.
9/2020Corrigendum to "Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia" J Clin Lipidol 11 (2017) 1338-1346.
7/2020Next-generation sequencing to confirm clinical familial hypercholesterolemia.
3/2020ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
3/2019The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
12/2018A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
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Joep C Defesche Research Topics

Disease

43Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
01/2022 - 12/2002
24Cardiovascular Diseases (Cardiovascular Disease)
01/2022 - 04/2002
7Hypercholesterolemia
01/2022 - 01/2003
7Homozygous Familial Hypercholesterolemia
03/2019 - 01/2003
6Coronary Disease (Coronary Heart Disease)
03/2015 - 03/2008
5Coronary Artery Disease (Coronary Atherosclerosis)
01/2022 - 08/2004
5Xanthomatosis (Xanthoma)
08/2014 - 03/2008
5Atherosclerosis
12/2011 - 12/2008
4Dyslipidemias (Dyslipidemia)
10/2022 - 11/2016
3Myocardial Infarction
12/2013 - 02/2004
2Hyperlipoproteinemia Type III (Broad Beta Disease)
10/2022 - 12/2013
2Wolman Disease (Wolman's Disease)
01/2016 - 08/2013
2Vascular Diseases (Vascular Disease)
08/2014 - 12/2005
2Cholesterol Ester Storage Disease
12/2013 - 08/2013
2Inflammation (Inflammations)
04/2009 - 03/2009
2Hypertension (High Blood Pressure)
03/2008 - 02/2007
1Injection Site Reaction
11/2017
1Genetic Risk Score
07/2016
1Type 2 Diabetes Mellitus (MODY)
03/2015
1Rare Diseases (Rare Disease)
03/2015
1Death (Near-Death Experience)
12/2013
1Sclerosis
03/2011
1Hypobetalipoproteinemias (Hypobetalipoproteinemia)
05/2008
1Pancreatitis
10/2006
1Insulin Resistance
05/2006
13 Autosomal Dominant Hypercholesterolemia
12/2005

Drug/Important Bio-Agent (IBA)

29LDL CholesterolIBA
01/2022 - 04/2002
19LDL Receptors (LDL Receptor)IBA
03/2018 - 12/2002
16oxidized low density lipoproteinIBA
01/2022 - 03/2003
15Apolipoproteins B (ApoB)IBA
01/2021 - 03/2005
12ApolipoproteinsIBA
03/2018 - 06/2003
9CholesterolIBA
10/2022 - 01/2003
8LipidsIBA
01/2021 - 01/2003
6Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
03/2015 - 02/2004
5Proprotein Convertase 9IBA
01/2022 - 03/2015
5DNA (Deoxyribonucleic Acid)IBA
11/2018 - 01/2003
4Lipoproteins (Lipoprotein)IBA
10/2022 - 12/2002
4LDL Lipoproteins (beta Lipoproteins)IBA
12/2017 - 08/2004
3Apolipoproteins E (ApoE)IBA
10/2022 - 07/2020
3alirocumabIBA
09/2020 - 11/2017
3HDL CholesterolIBA
03/2008 - 10/2005
2Sterol Esterase (Hormone-Sensitive Lipase)IBA
01/2016 - 08/2013
2SubtilisinIBA
08/2014 - 05/2013
2Proprotein Convertases (Pro-Opiomelanocortin Converting Enzyme)IBA
08/2014 - 05/2013
2A-Form DNA (A-DNA)IBA
05/2013 - 06/2009
2Glucocorticoid Receptors (Glucocorticoid Receptor)IBA
12/2008 - 10/2006
2Triglycerides (Triacylglycerol)IBA
03/2008 - 02/2007
1ALN-PCSIBA
01/2022
1Small Interfering RNA (siRNA)IBA
01/2022
1Atorvastatin (Lipitor)FDA Link
11/2017
1Ezetimibe (Zetia)FDA Link
11/2017
1Lipoprotein(a)IBA
03/2017
1mipomersenIBA
08/2014
1BMS201038IBA
08/2014
1Apolipoprotein E4IBA
12/2011
1Protein Isoforms (Isoforms)IBA
12/2011
1Mannose-Binding Lectin (Mannan-Binding Lectin)IBA
03/2011
1Pravastatin (Pravachol)FDA LinkGeneric
03/2011
1Arachidonate 5-Lipoxygenase (5 Lipoxygenase)IBA
09/2009
1Proteins (Proteins, Gene)FDA Link
09/2009
15-Lipoxygenase-Activating ProteinsIBA
04/2009
1Complement System Proteins (Complement)IBA
03/2009
1Complement Factor H (Factor H)IBA
03/2009
1GlucocorticoidsIBA
12/2008
1CalciumIBA
12/2008
1LigandsIBA
03/2008
1Apolipoprotein B-100 (Apo B 100)IBA
03/2008
1AngiotensinogenIBA
03/2008
1Lipoprotein Lipase (Diacylglycerol Lipase)IBA
10/2006
1Lipase (Acid Lipase)FDA Link
10/2006
1Glucose (Dextrose)FDA LinkGeneric
05/2006
1Leucine (L-Leucine)FDA Link
03/2005
1Pharmaceutical PreparationsIBA
02/2004

Therapy/Procedure

5Therapeutics
03/2017 - 02/2004
1Blood Component Removal (Apheresis)
09/2016