Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Erdoğan KM et al.
Annals of Human Genetics, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.
Iannuzzo G et al.
Frontiers in Endocrinology, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Concurrent Living Donor Liver Transplantation and Off-Pump Coronary Artery Bypass in a Five-Year-Old Child With Homozygous Familial Hypercholesterolemia: A Case Report.
Kazimi M et al.
Transplantation Proceedings, 2023
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
Gazzotti M et al.
Frontiers in Genetics, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
Turkyilmaz A et al.
Metabolic Syndrome and Related Disorders, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Di Taranto MD et al.
Journal of Clinical Medicine, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.
Zhao PJ et al.
Cjc Open, 2019
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.
Klaus G et al.
Pediatric Nephrology (berlin, Germany), 2018
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.
Romano M et al.
Journal of Lipid Research, 2011
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
Romano M et al.
Atherosclerosis, 2010
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
Guardamagna O et al.
The Journal of Pediatrics, 2009
Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications.
Kındış E et al.
Journal of Clinical Lipidology, 0