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Sharon Li Ting Pek et al.
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Eliot A. Brinton et al.
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Pablo Corral et al.
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Hayato Tada et al.
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Di Sun et al.
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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update
Sarah Leigh et al.
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Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina
Virginia G. Banares et al.
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Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
Raul D. Santos et al.
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Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
Martine Paquette et al.
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J. A. Hubacek et al.
PHYSIOLOGICAL RESEARCH (2017)
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V. Blaha et al.
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Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
Angela Pirillo et al.
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L. Tichy et al.
PHYSIOLOGICAL RESEARCH (2017)
ScreenPro FH: From the Czech MedPed to International Collaboration. ScreenPro FH Is a Participating Project of the EAS-FHCS
R. Ceska et al.
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Ronen Durst et al.
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Gerald F. Watts et al.
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Nathalia Grave et al.
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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
Amit V. Khera et al.
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High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study
Anne Langsted et al.
LANCET DIABETES & ENDOCRINOLOGY (2016)
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Faheem W. Guirgis et al.
CRITICAL CARE (2016)
Familial hypercholesterolaemia: A global call to arms
Antonio J. Vallejo-Vaz et al.
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Targeted next-generation sequencing in monogenic dyslipidemias
Robert A. Hegele et al.
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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)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
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J. A. Fernandez-Higuero et al.
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Marta Futema et al.
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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
Marina Cuchel et al.
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Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
Emily C. O'Brien et al.
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Leslie A. Lange et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Penny J. Norsworthy et al.
BMC MEDICAL GENETICS (2014)
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias
Christopher T. Johansen et al.
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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Marta Futema et al.
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Exome Sequencing: New Insights into Lipoprotein Disorders
Sali M. K. Farhan et al.
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M. Vrablik et al.
PHYSIOLOGICAL RESEARCH (2014)
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
Stefano Bertolini et al.
ATHEROSCLEROSIS (2013)
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum
Tatiana Yu Komarova et al.
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Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol
Daniel S. Kim et al.
JOURNAL OF LIPID RESEARCH (2013)
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
Philippa J. Talmud et al.
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Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
Kristian Tveten et al.
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Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol
Brian H. Shirts et al.
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The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations
Lukas Tichy et al.
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Significance of Genome-Wide Analysis of Copy Number Alterations and UPD in Myelodysplastic Syndromes using Combined CGH - SNP Arrays
Ausaf Ahmad et al.
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Marianne Benn et al.
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Lorenzo Zaffiri et al.
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Rolf Bambauer et al.
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Li Ma et al.
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Jan Chr et al.
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Genetic markers in hypercholesterolemic and normocholesterolemic Czech children
Rudolf Poledne et al.
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Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
Marie Marduel et al.
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Sex-specific interaction between APOE and APOA5 variants and determination of plasma lipid levels
Jaroslav A. Hubacek et al.
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LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population
Kai-Chien Yang et al.
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Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene - Long-term follow-up and treatment response
RP Naoumova et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2005)
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
TP Leren
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A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
KM Timms et al.
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Polymorphisms in CYP-7A1, not APOE, influence the change in plasma lipids in response to population dietary change in an 8 year follow-up;: results from the Czech MONICA study
JA Hubacek et al.
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
M Abifadel et al.
NATURE GENETICS (2003)
Specificity of the commonly used enzymatic assay for plasma cholesterol determination
MH Moghadasian et al.
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Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH:: a clinical and molecular genetic analysis
M Arca et al.
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CK Garcia et al.
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