相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Joana R. Chora et al.
GENETICS IN MEDICINE (2022)
Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families
Fahad Alnouri et al.
CURRENT VASCULAR PHARMACOLOGY (2022)
Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study
Gabriella Iannuzzo et al.
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES (2022)
Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting
Moeber Mahzari et al.
ADVANCES IN THERAPY (2021)
Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism
Mohammad Athar et al.
CLINICA CHIMICA ACTA (2021)
Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen
Zuhier Ahmed Awan et al.
FRONTIERS IN MEDICINE (2021)
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia
Nagham N. Hindi et al.
JOURNAL OF PERSONALIZED MEDICINE (2021)
Next-generation sequencing to confirm clinical familial hypercholesterolemia
Laurens F. Reeskamp et al.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2021)
Knowledge and Perceptions Towards Cardiovascular Disease Prevention Among Patients with Type 2 Diabetes Mellitus: A Review of Current Assessments and Recommendations
Mohamed Hassan Elnaem et al.
CURRENT DIABETES REVIEWS (2021)
2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS)
Francois Mach et al.
EUROPEAN HEART JOURNAL (2020)
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes
Maria Donata Di Taranto et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Long-Term Evolocumab in Patients With Familial Hypercholesterolemia
Raul D. Santos et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
Katherine A. Wilemon et al.
JAMA CARDIOLOGY (2020)
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners
Fahad Alnouri et al.
GLOBAL HEART (2020)
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
Unai Galicia-Garcia et al.
SCIENTIFIC REPORTS (2020)
Efficacy and Safety of Alirocumab in Adults With Homozygous Familial Hypercholesterolemia The ODYSSEY HoFH Trial
Dirk J. Blom et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)
Genetics of Familial Hypercholesterolemia: New Insights
Michal Vrablik et al.
FRONTIERS IN GENETICS (2020)
GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study
Hyoeun Kim et al.
SCIENTIFIC REPORTS (2020)
Sub-optimal cholesterol response to initiation of statins and future risk of cardiovascular disease
Ralph Kwame Akyea et al.
HEART (2019)
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
Joana Rita Chora et al.
GENETICS IN MEDICINE (2018)
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab
Aurelie Thedrez et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2018)
Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia
Fahad Alnouri et al.
ATHEROSCLEROSIS (2018)
Impact of Lipids on Cardiovascular Health JACC Health Promotion Series
Brian A. Ference et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population
Fatima A. Morad et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2018)
Proprotein convertase subtilisin/kexin 9 inhibition in patients with familial hypercholesterolemia: Initial clinical experience
Annette M. H. Galema-Boers et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2017)
Assessment of physicians' awareness and knowledge of familial hypercholesterolemia in Saudi Arabia: Is there a gap?
Mohammed Ali Batais et al.
PLOS ONE (2017)
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry
Faisal Alallaf et al.
OPEN CARDIOVASCULAR MEDICINE JOURNAL (2017)
Non-response to (statin) therapy: the importance of distinguishing non-responders from non-adherers in pharmacogenetic studies
S. Trompet et al.
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY (2016)
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease
Burhan M. Edrees et al.
GENE (2016)
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children
Faisal A. Al-Allaf et al.
GENOMICS (2016)
Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia 5-Year SAFEHEART Registry Follow-Up
Leopoldo Perez de Isla et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
Albert Wiegman et al.
EUROPEAN HEART JOURNAL (2015)
Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease
Faisal A. Al-Allaf et al.
GENE (2015)
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial
Frederick J. Raal et al.
LANCET (2015)
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
Paulo Caleb Junior Lima Santos et al.
ATHEROSCLEROSIS (2014)
Effect of the Proprotein Convertase Subtilisin/Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia
Evan A. Stein et al.
CIRCULATION (2013)
ViennaRNA Package 2.0
Ronny Lorenz et al.
ALGORITHMS FOR MOLECULAR BIOLOGY (2011)
Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Paul N. Hopkins et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2011)
Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART)
Nelva Mata et al.
LIPIDS IN HEALTH AND DISEASE (2011)
Nonsense-mediated decay of human LDL receptor mRNA
Oystein Lunde Holla et al.
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2009)
Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia
Daniel M. Kolansky et al.
AMERICAN JOURNAL OF CARDIOLOGY (2008)
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
R. Alonso et al.
ATHEROSCLEROSIS (2008)
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients
ACM Jansen et al.
JOURNAL OF INTERNAL MEDICINE (2004)
Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway
YH Li et al.
JOURNAL OF LIPID RESEARCH (2004)
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
M Abifadel et al.
NATURE GENETICS (2003)
Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia
MC Vohl et al.
ATHEROSCLEROSIS (2002)
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
CK Garcia et al.
SCIENCE (2001)
分享论文
