81 documents found, page 1 of 9
Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Da...
Ferreira, M.; Chora, J.R.; Medeiros, A.M.; Bourbon, M.; Alves, A.C.Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing...
Familial hypercholesterolemia in Portugal - lipid-lowering strategies and cardi...
Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.Aims and study samples: Estimate cardiovascular disease (CVD) risk; What are the lipid-lowering therapy (LLT) strategies; How many are reaching LDL-C targets … in Familial Hypercholesterolemia (FH) patients and in the Portuguese general population.
Extended next-generation sequencing panel for Familial Hypercholesterolemia
Medeiros, A.M.; Alves, A.C.; Bourbon, M.Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9. Recently, other 5 genes have been associated with the FH phenotype (LDLRAP1, APOE, L...
Familial Hypercholesterolemia Monogenic Polygenic or Both
Medeiros, A.M.; Alves, A.C.; Chora, J.R.; Bourbon, M.The present work aims to determine the genetic cause (monogenic or polygenic) of hypercholesterolemia in clinical FH patients.
miRNA target-binding sites as regulators of genes involved in the lipid metabol...
Medeiros, A.M.; Enguita, F.J.; Bourbon, M.Aims to analyze miRNAs target sites as regulators of genes involved in the lipid metabolism in FH mutation-negative patients.
Cardiovascular risk estimation and management in Familial Hypercholesterolemia ...
Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.Objectives and study samples: - Estimate cardiovascular disease (CVD) risk; - What are the lipid-lowering therapy (LLT) strategies; - How many are reaching LDL-C targets; … in Familial Hypercholesterolemia (FH) patients and in the Portuguese general population
Unravelling the genetic background in individuals with Familial Hypercholestero...
Medeiros, A.M.; Alves, A.C.; Bourbon, M.Aim: Genetic diagnosis is the only method to correctly identify patients with Familial hypercholesterolemia (FH) but 40%–50% of these individuals do not have a causative variant in LDLR, APOB and PCSK9 genes. In this work, we aim to characterize the genetic background of individuals with FH phenotype.
Genetic status of the Portuguese FH Study: Variant description and Next Generat...
Medeiros, A.M.; Alves, A.C.; Bourbon, M.Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 genes: LDLR, APOB, PCSK9; Recently, 5 genes have been associated with FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) s...
Pediatric Familial Hypercholesterolaemia
Abrantes, L.B.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Ferreira, A.C.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.
Epigenetics in Familial Hypercholesterolaemia miRNA binding sites as regulators...
Medeiros, A.M.; Enguita, F.; Bourbon, M.Familial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria, only the genetic diagnosis confirms the clinical suspicion.