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List of works by Mafalda Bourbon

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

article

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 Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

scientific article published on 15 September 2015

Characterization of the First PCSK9 Gain of Function Homozygote

scientific article published in November 2015

ClinVar database of global familial hypercholesterolemia-associated DNA variants

scientific article published on 01 November 2018

Clinical Genetic Testing for Familial Hypercholesterolemia

scientific article published on 01 August 2018

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

scientific article published on 23 November 2016

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

Familial hypercholesterolaemia in Portugal.

scientific article published on 31 August 2007

Familial hypercholesterolaemia: A global call to arms

scientific article published on 18 September 2015

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

scientific article

Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela

scientific article published on 04 July 2017

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

scientific article published in May 2009

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

scientific article published on 18 February 2014

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

Immune cell changes in response to a swimming training session during a 24-h recovery period.

scientific article

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia

article

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

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

scientific article published on 13 November 2013

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) ⬇️

scientific article published in October 2018

Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

scientific article published on 10 March 2015

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

scientific article published on 06 December 2016

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

scientific article published on 28 February 2017

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

scientific article

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

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations

scientific article published on 19 May 2008

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