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List of works by Ana Catarina Alves

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

scientific article

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

scientific article published on 26 October 2017

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

scientific article published on 13 March 2014

Cardiovascular risk profile of high school students: a cross-sectional study.

scientific article published on 12 September 2014

Characterization of the First PCSK9 Gain of Function Homozygote

scientific article published in November 2015

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

scientific article published on 23 November 2016

Familial hypercholesterolaemia in Portugal.

scientific article published on 31 August 2007

Functional 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 Activity

scientific article published on 03 October 2019

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

scientific article published in May 2009

Genomics of familial hypercholesterolaemia

scientific article published on 01 April 2019

Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups.

scientific article published on 10 February 2016

How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound

scientific article published on 4 September 2013

Hypercholesterolemia--a disease with expression from childhood.

scientific article published on 11 May 2013

In vitro functional characterization of missense mutations in the LDLR gene.

scientific article published on 20 August 2012

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia

scientific article published on 6 February 2017

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

scientific article published on 17 November 2016

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry

scientific article published on 6 April 2017

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

scientific article

No Evidence for Lower Levels of Serum Vitamin D in the Presence of Hepatic Steatosis. A Study on the Portuguese General Population

article

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

scientific article published on 13 November 2013

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

scientific article

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

scientific article published on 01 March 2020

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

scientific article published on 5 March 2015

Update of the Portuguese Familial Hypercholesterolaemia Study

scientific article published on 8 August 2010

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