about
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups.Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.Update of the Portuguese Familial Hypercholesterolaemia Study.How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound.Hypercholesterolemia--a disease with expression from childhood.Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.Cardiovascular risk profile of high school students: a cross-sectional study.Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?In vitro functional characterization of missense mutations in the LDLR gene.Familial hypercholesterolaemia in Portugal.No Evidence for Lower Levels of Serum Vitamin D in the Presence of Hepatic Steatosis. A Study on the Portuguese General PopulationAnalysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosisCharacterization of the First PCSK9 Gain of Function HomozygoteFunctional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR ActivityGenomics of familial hypercholesterolaemiaThe familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
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description
hulumtuese
@sq
medical researcher
@en
onderzoeker
@nl
հետազոտող
@hy
name
Ana Catarina Alves
@ast
Ana Catarina Alves
@en
Ana Catarina Alves
@es
Ana Catarina Alves
@nl
Ana Catarina Alves
@sl
type
label
Ana Catarina Alves
@ast
Ana Catarina Alves
@en
Ana Catarina Alves
@es
Ana Catarina Alves
@nl
Ana Catarina Alves
@sl
altLabel
AC Alves
@en
prefLabel
Ana Catarina Alves
@ast
Ana Catarina Alves
@en
Ana Catarina Alves
@es
Ana Catarina Alves
@nl
Ana Catarina Alves
@sl
P108
P1053
K-6455-2014
P106
P1153
55676862500
P21
P31
P3829
P496
0000-0003-3157-7542