Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

K. I. Dharmayat, A. Vallejo-Vaz, C. A. Stevens, (...), M. Bourbon, (...), A. Medeiros, A. Alves, (...), R. Santos, K. K. Ray

The Lancet, vol. 403(10421), 2024, pp. 55-66

Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype.

A. Medeiros, A. Alves, B. Miranda, J. Chora, M. Bourbon

Journal of Lipid Research, vol. 65(2), 2024 Feb, p. 100490

Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults.

J. Albuquerque, A. Medeiros, A. Alves, Cinthia Elim Jannes, R. Mancina, C. Pavanello, J. Chora, Giuliana Mombelli, L. Calabresi, A. C. Pereira, José Eduardo Krieger, Stefano Romeo, M. Bourbon, Marília Antunes

Atherosclerosis, vol. 383, 2023 Oct, pp. 117314

High-Throughput Microscopy Characterization of Rare LDLR Variants

R. Graça, M. Zimon, A. C. Alves, R. Pepperkok, M. Bourbon

JACC: Basic to Translational Science, vol. 8(8), 2023 Aug 28, pp. 1010-1021

Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing

G. Latkovskis, R. Rescenko, G. Nesterovics, M. Briviba, V. Saripo, D. Gilis, E. Terauda, R. Meiere, G. Skudrina, A. Erglis, J.R. Chora, M. Bourbon, J. Klovins

Journal of Clinical Medicine, vol. 12(15), 2023 Aug 7, p. 5160

The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus: Proteomic and Quantitative PCR Analysis

Rebeca André, R. Pacheco, A. Alves, Hugo M. Santos, M. Bourbon, M. Serralheiro

Foods, vol. 12(14), 2023 Jul, p. 2758

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

M. Cuchel, Paul C Lee, L. Hudgins, (...), M. Bourbon, J. Chora, D. Rader, J. Knowles, K. Wilemon, M. McGowan

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, vol. 12(9), 2023 May 2, pp. e029175

Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

A. Medeiros, M. Bourbon

Current Atherosclerosis Reports, vol. 25(4), 2023 Apr, pp. 127-132

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal

A. Alves, B. Miranda, O. Moldovan, R. E. Santo, R. G. Silva, S. S. Cardoso, L. Diogo, M. Seidi, S. Sequeira, M. Bourbon

Frontiers in Genetics, vol. 13, 2023 Apr 17, pp. 1-13

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Chora JR, Iacocca MA, Tichý L, (...), Freiberger T, Knowles JW, Bourbon M, ClinGen Familial Hypercholesterolemia Expert Panel

Genetics in Medicine, vol. 24(2), 2022, pp. 293-306

Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects

J. Albuquerque, A. Medeiros, A. Alves, M. Bourbon, M. Antunes

Scientific reports, vol. 12(1), 2022, p. 1164

Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia

J. Albuquerque, A. Medeiros, A. Alves, M. Bourbon, M. Antunes

PloS one, vol. 17(6), 2022, pp. e0269713

The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration

Nicole Bedlington, M. Abifadel, Birgit Beger, M. Bourbon, (...), M. Vrablik, A. Wiegman, I. Gutiérrez-Ibarluzea

GMS health innovation and technologies, vol. 16, 2022

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.

R. Graça, A. Alves, M. Zimon, R. Pepperkok, M. Bourbon

Journal of clinical lipidology, vol. 16(4), 2022, pp. 516-524

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

T. Tromp, M. Hartgers, G. Hovingh, (...), M. Bourbon, (...), T. Truong, D. Blom, F. Raal

The Lancet, vol. 399(10326), 2022, pp. 719-728

The 2-hydroxy-nevirapine metabolite as a candidate for boosting apolipoprotein A1 and for modulating anti-HDL antibodies.

A. Marinho, J. Batuca, J. Miranda, U. Caixas, C. Dias, T. Branco, K. Soto, P. Pinheiro, M. Bourbon, M. M. Marques, A. Antunes, E. Monteiro, S. Pereira

Pharmacological research, vol. 27, 2021, p. 105446

Polygenic contribution for familial hypercholesterolemia (FH)

A. Medeiros, M. Bourbon

Current opinion in lipidology, vol. 32(6), 2021, pp. 392-395

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

A. Vallejo-Vaz, C. Stevens, A. Lyons, (...), M. Bourbon, (...), E. M. Rodriguez, Cristina M. Sibaja, Alma B.M. Rodriguez

The Lancet, S0140-6736(21), 2021, pp. 01122-3

Applicability of Martin-Hopkins formula and comparison with Friedewald formula for estimated low-density lipoprotein cholesterol in e_COR study population

C. Ferrinho, A. Alves, M. Bourbon, S. Duarte

Revista Portuguesa de Cardiologia (English Edition), S0870-2551(21), 2021, pp. 00241-9

Pharmacogenomics of statins and familial hypercholesterolemia

J. Chora, M. Bourbon

Current opinion in lipidology, vol. 32(2), 2021, pp. 96-102

Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia

M. Correia, Eva Kagenaar, D. V. van Schalkwijk, M. Bourbon, M. Gama-Carvalho

Scientific reports, vol. 11(1), 2021, p. 3801

Brown Algae Potential as a Functional Food against Hypercholesterolemia: Review

Rebeca André, R. Pacheco, M. Bourbon, M. Serralheiro

Foods, vol. 10(2), 2021, p. 234

Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes

R. Graça, R. Fernandes, A. Alves, J. Menezes, L. Romão, M. Bourbon

Biomedicines, vol. 9(9), 2021 Sep 14, p. 1219

LDLR variants functional characterization: Contribution to variant classification.

A. Alves, S. Azevedo, A. Benito-Vicente, R. Graça, U. Galicia-Garcia, P. Barros, P. Jordan, César Martín, M. Bourbon

Atherosclerosis, vol. 329, 2021 Jul, pp. 14-21

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

M. Futema, U. Ramaswami, L. Tichý, (...), A. Medeiros, M. Bourbon, V. Mollaki, E. Drogari, S. Humphries

Atherosclerosis, vol. 319, 2021 Feb 1, pp. 108-117

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica

A. Alves, R. Alonso, J. Díaz-Díaz, A. Medeiros, (...), P. Mata, M. Bourbon, R. Santos

Arteriosclerosis, thrombosis, and vascular biology, vol. 40(10), 2020, pp. 2508-2515

Metabolic Dysfunction and Asthma: Current Perspectives

H. Pité, L. Aguiar, J. Morello, E. Monteiro, A. Alves, M. Bourbon, M. Morais‐Almeida

Journal of asthma and allergy, vol. 13, 2020, pp. 237-247

Prevalence and risk factors of fatty liver in Portuguese adults

J. Leitão, S. Carvalhana, J. Cochicho, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Alves, M. Bourbon, B. Oliveiros, V. Rodrigues, Rita Sousa, F. Sampaio, Armando Carvalho, H. Cortez‐Pinto

European journal of clinical investigation, vol. 50(6), 2020, pp. e13235

What Is the Role of the New Index Relative Fat Mass (RFM) in the Assessment of Nonalcoholic Fatty Liver Disease (NAFLD)?

M. Machado, S. Policarpo, J. Coutinho, S. Carvalhana, J. Leitão, Armando Carvalho, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Alves, M. Bourbon, H. Cortez‐Pinto

Obesity Surgery, vol. 30, 2020 Oct 22, pp. 560-568

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

C. Mariano, A. Alves, A. Medeiros, J. Chora, M. Antunes, M. Futema, S. Humphries, M. Bourbon

Clinical genetics, vol. 97(3), 2020 Mar, pp. 457-466

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

U. Ramaswami, M. Futema, M. P. Bogsrud, K. Holven, J. E. Roeters van Lennep, A. Wiegman, O. Descamps, M. Vrablik, T. Freiberger, H. Dieplinger, S. Greber-Platzer, Gabriele Hanauer-Mader, M. Bourbon, E. Drogari, S. Humphries

Atherosclerosis, vol. 292, 2020 Jan 1, pp. 178-187

Genomics of familial hypercholesterolaemia

A. Alves, J. Chora, M. Bourbon

Current opinion in lipidology, vol. 30(2), 2019, pp. 148-150

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

P. Banerjee, Kuo-Chen Chan, Michel Tarabocchia, A. Benito-Vicente, A. Alves, K. Uribe, M. Bourbon, P. Skiba, R. Pordy, D. Gipe, D. Gaudet, César Martín

Arteriosclerosis, thrombosis, and vascular biology, vol. 39, 2019 Oct 3, pp. 2248-2260

Hypercysteinemia, A Potential Risk Factor for Central Obesity and Related Disorders in Azores, Portugal

A. Lima, R. Ferin, M. Bourbon, J. Baptista, M. Pavão

Journal of Nutrition and Metabolism, vol. 2019(Article ID 1826780), 2019 Jun 20

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

J. Leitão, S. Carvalhana, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Alves, M. Bourbon, B. Oliveiros, Armando Carvalho, H. Cortez‐Pinto

International journal of medical sciences, vol. 15(14), 2018, pp. 1778-1786

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

M. Iacocca, J. Chora, A. Carrié, T. Freiberger, S. Leigh, J. Defesche, C. L. Kurtz, M. DiStefano, R. Santos, S. Humphries, P. Mata, C. Jannes, A. Hooper, K. Wilemon, P. Benlian, R. O'Connor, John Garcia, H. Wand, L. Tichý, E. Sijbrands, R. Hegele, M. Bourbon, J. Knowles

Human mutation, vol. 39, 2018, pp. 1631–1640

Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.

A. Alves, A. Benito-Vicente, A. Medeiros, Kaajal Reeves, César Martín, M. Bourbon

Atherosclerosis, vol. 277, 2018 Oct 1, pp. 448-456

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

A. Vallejo-Vaz, Martina De Marco, C. Stevens, (...), M. Bourbon, (...), J. Car, A. Catapano, K. Ray

Atherosclerosis, vol. 277, 2018 Oct 1, pp. 234-255

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

M. Futema, M. Bourbon, Maggie Williams, S. Humphries

Atherosclerosis, vol. 277, 2018 Oct 1, pp. 457-463

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

A. Sturm, J. Knowles, S. Gidding, (...), M. Bourbon, (...), K. Wilemon, D. Ledbetter, D. Rader

Journal of the American College of Cardiology, vol. 72(6), 2018 Aug 7, pp. 662-680

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

J. Chora, A. Alves, A. Medeiros, C. Mariano, G. Lobarinhas, A. Guerra, H. Mansilha, H. Cortez‐Pinto, M. Bourbon

Journal of clinical lipidology, vol. 11(2), 2017, pp. 477-484

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

J. Chora, A. Medeiros, A. Alves, M. Bourbon

Genetics in Medicine, vol. 20(6), 2017, pp. 591-598

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

R. Santos, M. Bourbon, R. Alonso, A. Cuevas, N. A. Vasques-Cardenas, A. Pereira, A. Merchán, A. Alves, A. Medeiros, C. Jannes, J. Krieger, L. Schreier, L. Pérez de Isla, M. T. Magaña-Torres, M. Stoll, N. Mata, Nicolás Dell Oca, P. Corral, S. Asenjo, V. Bañares, X. Reyes, P. Mata

Journal of clinical lipidology, vol. 11(1), 2017, pp. 160-166

Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela

Marcos Lima-Martínez, M. Paoli, A. Vázquez-Cárdenas, M. T. Magaña-Torres, O. Guevara, M. C. Muñoz, Alberto Parrilla-Alvarez, Y. Márquez, A. Medeiros, M. Bourbon

Endocrinología, Diabetes y Nutrición (English ed.), vol. 64(8), 2017 Oct, pp. 432-439

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

M. Bourbon, A. Alves, R. Alonso, N. Mata, P. Aguiar, T. Padró, P. Mata

Atherosclerosis, vol. 262, 2017 Jul 1, pp. 8-13

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

M. Bourbon, A. Alves, E. Sijbrands

Current opinion in lipidology, vol. 28(2), 2017 Apr, pp. 120-129

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

V. Bañares, P. Corral, A. Medeiros, M. Araujo, Alfredo Lozada, Juan P. Bustamante, R. Cerretini, G. Lopez, M. Bourbon, L. Schreier

Journal of clinical lipidology, vol. 11(2), 2017 Mar 1, pp. 524-531

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

S. Carvalhana, J. Leitão, A. Alves, M. Bourbon, H. Cortez‐Pinto

European journal of gastroenterology & hepatology, vol. 28(6), 2016, pp. 640-644

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.

A. Vallejo-Vaz, A. Akram, S. R. Kondapally Seshasai, (...), M. Bourbon, (...), S. Yamashita, A. Catapano, K. Ray

Atherosclerosis Supplements, vol. 22, 2016 Dec, pp. 1-32

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

José P Morgado, C. Monteiro, J. Teles, J. Reis, C. Matias, M. T. Seixas, M. Alvim, M. Bourbon, M. J. Laires, F. Alves

Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme, vol. 41(5), 2016 May, pp. 476-483

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

A. Medeiros, A. Alves, M. Bourbon

Genetics in Medicine, vol. 18(4), 2016 Apr 1, pp. 316-324

Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal

V. Gaio, I. Picanço, B. Nunes, Aida Fernandes, F. Mendonça, F. Horta Correia, Á. Beleza, A. Gil, M. Bourbon, A. Vicente, C. Matias Dias, M. Barreto da Silva

Public Health Genomics, vol. 18(3), 2015, pp. 139-150

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

J. Fernández-Higuero, A. Etxebarria, A. Benito-Vicente, A. Alves, J. Arrondo, H. Ostolaza, M. Bourbon, C. Martin

Scientific reports, vol. 5, 2015 Dec 8, p. 18184

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

A. Benito-Vicente, A. Alves, A. Etxebarria, A. M. Medeiros, César Martín, M. Bourbon

Genetics in Medicine, vol. 17(12), 2015 Dec 1, pp. 980-988

Characterization of the first PCSK9 gain of function homozygote.

A. Alves, A. Etxebarria, A. Medeiros, A. Benito-Vicente, A. Thédrez, Maxime Passard, M. Croyal, César Martín, G. Lambert, M. Bourbon

Journal of the American College of Cardiology, vol. 66(19), 2015 Nov 10, pp. 2152-2154

Familial hypercholesterolaemia: A global call to arms.

A. Vallejo-Vaz, S. R. Kondapally Seshasai, D. Cole, (...), M. Bourbon, (...), E. Widén, A. Catapano, K. Ray

Atherosclerosis, vol. 243(1), 2015 Nov 1, pp. 257-259

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

P. Hopkins, J. Defesche, S. Fouchier, (...), M. Bourbon, (...), S. Hamon, M. Krempf, G. Swergold

Circulation. Cardiovascular genetics, vol. 8, 2015 Sep 15, pp. 823-831

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

A. Etxebarria, A. Benito-Vicente, A. Alves, H. Ostolaza, M. Bourbon, César Martín

PloS one, vol. 9(11), 2014, pp. e112677

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

S. Carvalhana, J. Leitão, A. Alves, M. Bourbon, H. Cortez‐Pinto

Liver international, vol. 34(6), 2014, pp. e111-117

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

T. Cymbron, Patrícia Mendes, A. Ramos, M. Raposo, N. Kazachkova, A. Medeiros, J. Bruges-Armas, M. Bourbon, M. Lima

Meta gene, 2014, pp. 638-645

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

V. Gaio, B. Nunes, Aida Fernandes, F. Mendonça, F. Horta Correia, Á. Beleza, A. Gil, M. Bourbon, A. Vicente, C. Dias, M. Barreto da Silva

Diabetology & Metabolic Syndrome, vol. 6(23), 2014

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

A. Medeiros, A. Alves, P. Aguiar, M. Bourbon

Journal of Lipid Research, vol. 55(5), 2014 May 1, pp. 947-955

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

A. Alves, A. Etxebarria, A. Soutar, César Martín, M. Bourbon

Human molecular genetics, vol. 23(7), 2013, pp. 1817-1828

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers for the correct assessment of monogenic dyslipidemia

A. Medeiros, A. Alves, P. Aguiar, M. Bourbon, Estudo Português de Hipercolesterolemia Familiar

J Lipid Res, vol. 55(5), 2013, pp. 947-955

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

S. Silva, A. Alves, D. Patel, R. Malhó, A. Soutar, M. Bourbon

Atherosclerosis, vol. 225(1), 2012 Nov 1, pp. 128-134

Update of the Portuguese Familial Hypercholesterolaemia Study.

A. Medeiros, A. Alves, V. Francisco, M. Bourbon, on behalf of the investigators of the Portuguese FH Study

Atherosclerosis, vol. 212(2), 2010 Oct 1, pp. 553-558

Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification.

A. Alves, A. Medeiros, V. Francisco, I. Gaspar, Q. Rato, M. Bourbon

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 29(6), 2010 Jun, pp. 907-921

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

M. Bourbon, M. A. Duarte, A. Alves, A. Medeiros, L. Marques, A. Soutar

Journal of Medical Genetics, vol. 46(5), 2009 May, pp. 352-357

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

E. Di Leo, L. Magnolo, M. Bertolotti, M. Bourbon, S. Carmo Pereira, M. Pirisi, S. Calandra, P. Tarugi

Clinical genetics, vol. 74(3), 2008 Sep, pp. 267-273

Portuguese study of familial dilated cardiomyopathy: the FATIMA study.

Elisabete Martins, J. Silva-Cardoso, M. Bicho, M. Bourbon, F. Ceia, M. Rebocho, B. Moura, C. Fonseca, M. Correia, D. Brito, C. Perdigão, H. Madeira, C. Abreu-Lima

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 27(9), 2008 Sep, pp. 1029-1042

Familial hypercholesterolaemia in Portugal.

M. Bourbon, A. Alves, A. Medeiros, S. Silva, A. Soutar, on behalf of the investigators of the Portuguese FH Study

Atherosclerosis, vol. 196(2), 2008 Feb 1, pp. 633-642

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

M. Bourbon, X.-M. Sun, A. Soutar

Atherosclerosis, vol. 195(1), 2007 Nov, pp. e17-20

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

M. Bourbon, X.-M. Sun, A. Soutar

Atherosclerosis, vol. 195(1), 2007 Nov 1, pp. E17-E20

Determinants of Variable Response to Statin Treatment in Patients With Refractory Familial Hypercholesterolemia

F. O'Neill, D. Patel, B. Knight, C. Neuwirth, M. Bourbon, A. Soutar, G. Taylor, G. Thompson, R. Naoumova

Arteriosclerosis, thrombosis, and vascular biology, vol. 21(5), 2001 May, pp. 832-837

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

D. Norman, X. Sun, M. Bourbon, B. Knight, R. Naoumova, A. Soutar

The Journal of clinical investigation, vol. 104(5), 1999, pp. 619-628

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

M. Bourbon, A. Fowler, X. Sun, A. Soutar

Clinical genetics, vol. 56(3), 1999 Sep, pp. 225-231

Familial hypercholesterolemia

J. Chora, A. M. Medeiros, A. Alves, Mafalda Bourbon

, Clinical DNA Variant Interpretation, Familial hypercholesterolemia, 1st edition, Academic Press, 2021, pp. 323-348

Analysis of a paediatric cohort of dyslipidaemic patients using unsupervised learning methods provides insights into the biochemical phenotypes of familial hypercholesterolemia

M. Correia, M. Bourbon, M. Gama-Carvalho

medRxiv, 2022

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

J. Chora, M. Iacocca, L. Tichý, (...), T. Freiberger, J. Knowles, M. Bourbon

medRxiv, 2021

Estudo Português de Hipercolesterolemia Familiar (1999-2021): relação fenótipo-genótipo

A. M. Medeiros, A. C. Alves, J. R. Chora, B. Miranda, M. Bourbon, investigadores do Estudo Português de Hipercolesterolemia Familiar

Boletim Epidemiológico Observações, vol. 33, 2023 Jul, pp. 13-20

Síndrome de Quilomicronemia Familiar: Algoritmo Diagnóstico

Inês Colaço, F. Araújo, P. Aguiar, Diogo Cruz, Mafalda Bourbon, João Sequeira Duarte, Manuel Teixeira Veríssimo

Medicina Interna: Revista da Sociedade Portuguesa de Medicina Interna, vol. 28(4), 2021

Applicability of Martin-Hopkins formula and comparison with Friedewald formula for estimated low-density lipoprotein cholesterol in e_COR study population.

C. Ferrinho, A. Alves, M. Bourbon, S. Duarte

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 40(10), 2021 Oct, pp. 715-724

Recommendations for genetic testing in cardiology: Review of major international guidelines.

A. Sousa, O. Moldovan, A. Lebreiro, M. Bourbon, N. António, Q. Rato, P. Rodrigues, A. Toste, Miguel Gonçalves Rocha, Renata Oliveira, S. Granja, C. Cruz, Jorge S Almeida, Elisabete Martins

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 39(10), 2020 Oct, pp. 597-610

Estudo Português de Hipercolesterolemia Familiar

A. Medeiros, A. C. Alves, J. R. Chora, M. Bourbon

Boletim Epidemiológico Observações , vol. 6, 2017, pp. 15-18

Farmacogenética de fármacos antidislipidémicos

Joana Rita Chora, Mafalda Bourbon

Boletim Epidemiológico Observações, vol. 6, 2017, pp. 19-23

Estudo de dislipidemias familiares monogénicas raras

A.C. Alves, S. Sequeira, O. Moldovan, G. Lobarinhas, H. F. Mansilha, S. Duarte, A. Gaspar, A. Guerra, M. Bourbon

Boletim Epidemiológico Observações, vol. 7(2), 2016, pp. 52-56

Estudo português de hipercolesterolemia familiar: 15 anos

A. C. Alves, A. Medeiros, Bourbon Mafalda, Estudo Português de Hipercolesterolemia Familiar

Boletim Epidemiológico Observações, vol. 3(7), 2014, pp. 32-34

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

T. Rocha, E. Rocha, A. Alves, A. Medeiros, V. Francisco, Sónia Silva, Isabel Mendes Gaspar, Q. Rato, M. Bourbon

Revista portuguesa de cardiologia, vol. 33(9), 2014, pp. 525-534

Sortilin and the risk of cardiovascular disease

M. F. Coutinho, M. Bourbon, M. Prata, S. Alves

Rev Port Cardiol, vol. 32(10), 2013, pp. 793-799

Hypercholesterolemia - A disease with expression since childhood

M. C. Espinheira, C. Vasconcelos, A. Medeiros, A. Alves, M. Bourbon, A. Guerra

Revista Portuguesa de Cardiologia (English Edition), vol. 32(5), 2013 May, pp. 379-386

Genetic factors and cardiovascular disease.

M. Bourbon

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 27(12), 2008 Dec, pp. 1559-1563

Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.

M. Bourbon, Q. Rato

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 25(11), 2006 Nov, pp. 999-1013

Characterization of molecular defects in Portuguese patients with familial hypercholesterolemia.

M. Bourbon

Imperial College London, 2006

Functional studies of APOB variants – The experience of the Portuguese familial hypercholesterolemia study

M. Ferreira, J. Chora, A. Medeiros, M. Bourbon, A. Alves

Atherosclerosis, 2023

Sitosterolemia in Iberoamerican countries: New cases and phenotype genotype analysis

A. Alves, J. Chora, B. Miranda, V. Bañares, M. Araújo, I. corral, H. González, F. Vilagut, C. Soler, S. Meavilla, M. B. Toledo, C. Volpe, X. Reyes, N. Dell’Oca, P. Martins, L. Vilarinho, A. Dias, P. Valdivielso, M. Bourbon

Atherosclerosis, vol. 379(S1), 2023 May 24, pp. S26-27

Genetic background of individuals with clinical diagnosis of FH from the Portuguese FH study cohort

A. Medeiros, A. Alves, J. Chora, B. Miranda, M. Bourbon

Atherosclerosis, vol. 379(S1), 2023 May 24, pp. S12

Adult cascade screening versus child reverse cascade screening in familial hypercholesterolemia

B. Miranda, A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, vol. 379(S1), 2023 May 24

Genetic spectrum in Latvian patients with familial hypercholesterolemia: First data from a whole genome sequencing study

G. Latkovskis, R. Reščenko, G. Nesterovics, M. Brīvība, V. Saripo, D. Gilis, R. Meiere, E. Terauda, G. Skudrina, A. Erglis, J. Chora, M. Bourbon, J. Kloviņš

Atherosclerosis, vol. 379(S1), 2023 May 24, pp. S10-11

Resolving conflicting LDLR variants in ClinVar - Progress of the ClinGen familial hypercholesterolemia variant curation expert panel

J. Chora, M. Iacocca, M. Elnagheeb, I. Kullo, M. Bourbon

Atherosclerosis, vol. 379(S1), 2023 May 24, pp. S12

Update of the study of rare monogenic familial dyslipidaemias in Portugal

A. Alves, M. Bourbon, B. Miranda

Atherosclerosis, vol. 355, 2022 Aug 1, pp. 138-139

Molecular diagnosis of genetic dyslipidaemias by next generation sequencing

B. Miranda, A. Alves, M. Bourbon

Atherosclerosis, vol. 355, 2022 Aug 1, pp. 148-149

LDLR variant classification with ClinGen Familial Hypercholesterolemia variant curation expert panel specifications

J. Chora, M. Bourbon, on behalf of the ClinGen’s FH VCEP

Atherosclerosis, vol. 355, 2022 Aug 1, pp. 49-50

Comparison of different LDL-C genetic risk score in a sample of clinical FH patients

A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, 2022 May 25

Personalised medicine for familial hypercholesterolemia – Pilot study

J. Chora, M. Bourbon

Atherosclerosis, issue 331, 2021 Aug, pp. E166

Functional characterization of variants in the 5’ UTR and promoter of LDLR gene

A. Alves, J. Menezes, R. Fernandes, L. Romão, M. Bourbon

Atherosclerosis, vol. 331, 2021 Aug 1, pp. E127

miRNA target-binding sites as regulators of genes involved in the lipid metabolism might explain the hypercholesterolaemia in FH patients

A. Medeiros, F. Enguita, M. Bourbon

Atherosclerosis, vol. 331, 2021 Jun 2, pp. E8

Characterisation of LDLR variants in the initiation codon

R. Graça, R. Fernandes, A. Alves, J. Menezes, L. Romão, M. Bourbon

Atherosclerosis, vol. 331, 2021 Jun 2, pp. E187

Familial chylomicronemia syndrome: Clinical and molecular characterization of individuals with clinical diagnosis in Portugal

A. Alves, L. Abrantes, S. Sequeira, O. Moldovan, C. Nunes, H. Antunes, E. Martins, R. Gonçalves, J. Duarte, A. Gaspar, A. Guerra, M. Salgado, A. C. Azevedo, M. Figueiredo, I. Palma, Q. Rato, M. Bourbon

Atherosclerosis, vol. 315, 2020 Dec 1, pp. E205-E206

Unravelling the genetic background in individuals with familial hypercholesterolemia phenotype

A. Medeiros, M. Bourbon, A. Alves

Atherosclerosis, vol. 315, 2020 Dec 1, pp. E97

Classification methods applied to familial hypercholesterolemia diagnosis at pediatric age: Comparison of Simon Broome criteria with modified decision tree models

J. Albuquerque, A. Alves, A. Medeiros, M. Bourbon, M. Antunes

Atherosclerosis, vol. 315, 2020 Dec 1, pp. E205

Pharmacogenomics of dyslipidaemia drugs in Portugal

J. Chora, M. Bourbon

Atherosclerosis, vol. 315, 2020 Dec 1, pp. e275

Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel

M. Iacocca, J. Chora, T. Freiberger, A. Carrié, E. Sijbrands, H. Wand, Maggie Williams, H. Zimmermann, A. Leon, C. L. Kurtz, L. Tichý, A. Alves, Jian Wang, M. Cuchel, S. Humphries, J. Defesche, P. Mata, R. Santos, I. Kullo, L. Brunham, R. Hegele, J. Knowles, M. Bourbon

Atherosclerosis, issue 315, 2020 Dec 1, pp. e5

LDL genetic risk score in patients with hypercholesterolemia to evaluate polygenic causes in Argentina

P. Corral, V. Bañares, A. Alves, G. Lopez, V. Zago, J. Martini, G. Berg, M. Bourbon, L. Schreier

Atherosclerosis, vol. 315, 2020 Dec 1, pp. E207

Single versus Multiple Imputation Methods Applied to Classify Dyslipidemic Patients Concerning Statin Usage: a Comparative Performance Study

J. Albuquerque, A. Alves, A. Medeiros, M. Bourbon, M. Antunes

Journal of Statistics on Health Decision, vol. 2(2), 2020 Oct 23, pp. 73-74

Genetics of the monogenic forms of dyslipidaemia

M. Bourbon

2019

Molecular Aspects Of Homozygous Familial Hypercholesterolemia In Ibero-American Countries

A. Alves, R. Alonso, A. Cuevas, (...), P. Mata, R. Santos, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E215

High Lipoprotein(A) Cholesterol In Patients With Familial Hypercholesterolemia

A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E41

FH Phenotype: Monogenic, Polygenic Or Other Causes?

C. Mariano, A. Alves, A. Medeiros, J. Chora, M. Futema, S. Humphries, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. e214

Classification Methods Applied To The Diagnosis Of Pediatric Patients With Familial Hypercholesterolemia: Comparison Of Simon Broome Criteria With Logistic Regression And Modified Decision Tree Models

J. Albuquerque, A. Alves, M. Bourbon, M. Antunes

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E216

Specification Of ACMG/AMP Guidelines For Variant Interpretation In Familial Hypercholesterolemia

J. Chora, M. Iacocca, A. Carrié, S. Leigh, L. Tichý, C. L. Kurtz, T. Freiberger, E. Sijbrands, R. Hegele, J. Knowles, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E68

Pediatric Familial Hypercholesterolaemia

L. Abrantes, A. Alves, A. Medeiros, S. Correia, A. Cruz, A. Ferreira, G. Lobarinhas, P. Garcia, A. Guerra, H. Mansilha, E. Martins, P. Martins, J. Salgado, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E216

The Influence Of The Lifestyle Factors On The Lipid Profile Of A Portuguese Population

M. Siopa, A. Pedro, M. Bourbon

Atherosclerosis, vol. 287, 2019 Aug 1, pp. E189-E190

THU-326-Relative fat mass: A new definition of obesity and NAFLD

M. Machado, S. Policarpo, J. Coutinho, S. Carvalhana, J. Leitão, Francisco Velasco, Isabel Medeiros, C. Alves, M. Bourbon, H. Cortez‐Pinto

Journal of Hepatology, vol. 70(1, Supplement: The International Liver Congress 2019 Abstract Book), 2019 Apr 1, pp. E303-E304

Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study

C. L. Kurtz, A. Carrié, J. Chora, M. Iacocca, S. Leigh, T. Freiberger, L. Tichý, J. Defesche, R. Hegele, E. Sijbrands, J. Knowles, M. Bourbon

2018

Familial hypercholesterolemia-associated variants in ClinVar

J. Chora, M. Iacocca, A. Carrié, T. Freiberger, S. Leigh, J. Defesche, C. L. Kurtz, M. DiStefano, R. Santos, S. Humphries, P. Mata, C. Jannes, A. Hooper, K. Wilemon, P. Benlian, R. O'Connor, John Garcia, H. Wand, L. Tichý, E. Sijbrands, R. Hegele, M. Bourbon, J. Knowles

2018

Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort

J. Chora, M. Iacocca, M. DiStefano, A. Carrié, T. Freiberger, S. Leigh, C. L. Kurtz, J. Defesche, E. Sijbrands, R. Hegele, J. Knowles, M. Bourbon

2018

The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR) in myocardial infarction

R. Fernandes, M. Bourbon, L. Romão

2018 Oct 6

Familial Hypercholesterolemia study in dyslipidemic children and adolescents: “Like father, Like son”

Gomes, S. Abreu, M. Bourbon, F. Pinto

Atherosclerosis, vol. 275, 2018 Aug 1, pp. E181

Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia - A clingen fh expert panel pilot study

J. Chora, M. Iacocca, A. Carrié, L. Tichý, S. Leigh, M. DiStefano, J. Defesche, C. L. Kurtz, E. Sijbrands, T. Freiberger, R. Hegele, J. Knowles, M. Bourbon

Atherosclerosis, vol. 275, 2018 Aug 1, pp. E98

Whole genome sequencing association studies of lipids levels

N. Rossi, M. Falchi, M. Bourbon, A. Visconti

Atherosclerosis, vol. 275, 2018 Aug 1, pp. E102

The importance to track variants in a genes causing recessive disorders within the family: A FH/Sitosterolemia clinical case

R. Graça, L. Abrantes, N. Rossi, A. Alves, A. Medeiros, M. Zimon, T. Rausch, V. Benes, R. Pepperkok, M. Bourbon

Atherosclerosis, vol. 275, 2018 Aug 1, pp. E80

Improving Familial Hypercholesterolaemia Diagnosis – Functional in Vitro Analysis of LDLR Missense Variants Found in the Portuguese FH Cohort

A. Alves, R. Graça, M. Bourbon

Atherosclerosis Supplements, vol. 32, 2018 Jun, p. 54

Screening Procedures Based in Modified Classification Trees Applied to Paediatric Familial Hypercholesterolemia

J. Albuquerque, A. Alves, M. Bourbon, M. Antunes

2018 Jun

Adaptation of ACMG/AMP Guidelines for Standardized Variant Interpretation in Familial Hypercholesterolemia

M. Iacocca, J. Chora, T. Freiberger, A. Carrié, S. Leigh, C. L. Kurtz, L. Tichý, M. DiStefano, H. Wand, J. Defesche, E. Sijbrands, R. Hegele, J. Knowles, M. Bourbon

Atherosclerosis Supplements, vol. 32, 2018 Jun, p. 51

Characterization of pediatric patients from Portuguese FH study

L. Abrantes, A. Alves, A. Medeiros, S. Correia, A. Cruz, G. Lobarinhas, P. Garcia, A. Guerra, H. Mansilha, E. Martins, P. Martins, J. Salgado, M. Bourbon

2018 May

Prevalence of alcoholic steatosis in the general adult Portuguese population

J. Leitão, S. Carvalhana, J. Cochicho, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Alves, M. Bourbon, B. Oliveiros, V. Rodrigues, A. Carvalho, H. Cortez‐Pinto

Journal of Hepatology, vol. 68(Supplement 1), 2018 Apr 1, pp. S806

Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia

M. Iacocca, J. Chora, E. Rivera, M. DiStefano, A. Carrié, E. Sijbrands, J. Defesche, T. Freiberger, J. Knowles, R. Hegele, M. Bourbon

2017

Sitosterolaemia: A case of rare hypercholesterolaemia in FH patient's cohort.

A. Alves, A. Medeiros, Gonçalo Padeira, Ana C. M. Ferreira, M. Bourbon

Atherosclerosis, vol. 263, 2017 Aug 1, pp. E228

APOB/APOA1 ratio and APOC2 are the best biomarkers to distinguish familial hypercholesterolemia from other dyslipidaemia.

A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, vol. 263, 2017 Aug 1, pp. E61

Applicability of the low-density lipoprotein cholesterol gene score in a South European population.

C. Mariano, M. Futema, S. Humphries, M. Bourbon

Atherosclerosis, vol. 263, 2017 Aug 1, pp. E99-E100

Cardiovascular risk in children: The clinical relevance of early and timely stratification.

Inês Gomes, Catarina Brandão, M. Bourbon, F. Pinto

Atherosclerosis, vol. 263, 2017 Aug 1, pp. E100

Systematic review of LDLR mutations associated to familial hypercholesterolaemia - evidence of functional studies and application of ACMG guidelines for FH diagnosis.

J. Chora, A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis, vol. 263, 2017 Aug 1, pp. E221

Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations

Gonçalo Padeira, Inés Gomes, C. Correia, C. Valongo, A. Alves, A. Medeiros, M. Bourbon, Ana C. M. Ferreira

2017 Mar

Hepatic steatosis in an adult population: stronger correlation with the presence of obesity and insulin resistence than with the dietary pattern. Results from a cross-sectional study

J. Leitão, J. Cochicho, S. Carvalhana, Francisco Velasco, A. P. Silva, Isabel Medeiros, A. Alves, M. Bourbon, B. Oliveiros, V. Rodrigues, A. Carvalho, H. Cortez‐Pinto

Journal of Hepatology, vol. 66(1, Supplement), 2017 Jan 1, pp. S418-S419

Vitamin D serum levels are only marginally lower in hepatic steatosis and do not correlate with Vitamin D dietary ingestion

J. Leitão, S. Carvalhana, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Alves, M. Bourbon, B. Oliveiros, A. Carvalho, H. Cortez‐Pinto

Journal of Hepatology, vol. 66(1, Supplement), 2017 Jan 1, pp. S418

How often do we misclassify alcoholic as nonalcoholic fatty liver disease due the subjectivity in assessing alcohol consumption

M. Machado, S. Policarpo, D. Barreira, S. Carvalhana, J. Leitão, A. P. Silva, Francisco Velasco, Isabel Medeiros, C. Alves, M. Bourbon, H. Cortez‐Pinto

Journal of Hepatology, vol. 66(1, Supplement), 2017 Jan 1, pp. S423

Benefits of targeting each risk factor for cardiovascular death

J. Frutuoso, G. Portugal, J. Oliveira, M. Bourbon

2016

Identification of novel biomarkers to distinguish polygenic and monogenic dyslipidemia system biology approach

M. Correia, M. Gama-Carvalho, M. Bourbon

2016

Genetic analysis of familial hypercholesterolaemia in Iberoamerican countries

J. Chora, P. Mata, R. Santos, A. Vázquez, M. Stoll, L. Schreier, A. Cuevas, A. Alves, A. Medeiros, L. P. Isla, C. Jannes, A. Pereira, N. Dell’Oca, X. Reyes, P. Corral, V. Bañares, T. Magaña-Torres, C. Aguilar-Salinas, R. Alonso, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep, pp. e34

Low birth weight and cardiovascular risk in a Portuguese sample

J. Frutuoso, M. Bourbon

2016 Sep

Semiology versus laboratory approaches: comparison between interarm blood preassure differences and APOB/APOA ratio

J. Frutuoso, P. Silva, J. Oliveira, M. Bourbon

2016 Sep

Functionally characterization of LDLR missense alterations found in clinical FH patients

A. Alves, S. Azevedo, A. Benito-Vicente, A. Etxebarria, P. Barros, A. Medeiros, César Martín, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E47

Genetic analysis of familial hypercholesterolemia in Mexico

A. Cardenas, M. T. M. Torres, Y. S. López, T. H. Flores, A. G. C. Fausto, J. R. García, F. Escalante, D. G. Marines, C. A. Salinas, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E39

Using percentiles to diagnose familial hypercholesterolemia in Portugal

A. C. Pereira, A. Alves, A. Medeiros, C. Mariano, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E33

Looks Like FH But it’s not FH - Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative Patients

A. Medeiros, M. Bourbon, P. Aguiar

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E203-E204

E_LIPID: Characterization of the lipid profile in the Portuguese population

C. Mariano, M. Antunes, Q. Rato, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E49

Will Familial Hypercholesterolaemia cohorts hide many more Lisosomal Acid Lipase Deficiency patients?

J. Chora, A. Alves, A. Medeiros, C. Mariano, G. Loubarinhas, A. Guerra, H. Mansilha, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E75

Cholesterol levels and glomerular filtration rate – Is there any association?

J. Frutuoso, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E150

The need to create awareness towards cholesterol

J. Frutuoso, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E3

Diabetic vascular disease and Maturity-onset diabetes of the young

J. M. Mafra, G. Gaspar, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E140

Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia

N. Rossi, M. Bourbon, F. Enguita

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E50

Construction of a new familial hypercholesterolaemia variant data base: A systematic review for a 2015 update

S. Azevedo, J. Chora, A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis, vol. 252, 2016 Sep 1, pp. E37-E38

Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients

A. Alves, S. Azevedo, A. Benito-Vicente, A. Etxebarria, P. Barros, A. Medeiros, César Martín, M. Bourbon

2016 May

Immune Response To Long Term Swimming Training

C. Monteiro, José P Morgado, M. T. Seixas, M. Alvim, M. Bourbon, J. Teles, J. Reis, C. Matias, M. J. Laires, F. Alves

Medicine and science in sports and exercise, vol. 48(5S), 2016 May, pp. 1028-1029

Screening for Liver Disease in the General Population: The Potential Utility of Using AST/ALT Ratio

S. Carvalhana, J. Leitão, A. Alves, A. P. Silva, Francisco Velasco, Isabel Medeiros, A. Carvalho, M. Bourbon, H. Cortez‐Pinto

Journal of Hepatology, vol. 64(2, Supplement), 2016 Jan 1, pp. S498

LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemia

S. Azevedo, A. Alves, A. Medeiros, P. Barros, César Martín, M. Bourbon

2015

Composición genética de la Hipercolesterolemia Familiar en Argentina en relación a los países de la Red Iberoamericana de HF

Virginia G. Bañares, Ana Catarina Alves, R. Alonso, Cinthia E. Jannes, A. M. Medeiros, Pablo Corral, N. Dell'Oca, M. B. Araujo, A. C. Pereira, G. Elikir, X. Reyes, A. Cuevas, A. Cárdenas, Mario Stoll, R. D. Santos, P. Mata, Laura Schreier, Mafalda Bourbon

2015

Genetic diagnosis of familial hypercholesterolaemia: The importance of an integrated analysis of clinical, molecular and functional data

A. Alves, A. Benito-Vicente, A. Etxebarria, A. Medeiros, César Martín, M. Bourbon

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E111-E112

Dunnigan-type familial partial lipodystrophy in a large Portuguese Kindred

A. Alves, O. Moldovan, A. Medeiros, A. Sousa, M. Bourbon

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E116

Different structure and particle size of p.Arg1164Thr and p.Gln4494del ApoB-100 variants: A biophysical approach to understand the functional impact in pathogenesis

A. Etxebarria, J. Fernández-Higuero, A. Benito-Vicente, A. Alves, M. Bourbon, H. Ostolaza, C. Martin

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E100

Mutational analysis of the Portuguese cohort with clinical diagnosis of Familial Hypercholesterolemia

A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E112

Characterization of the dyslipidaemia profile in Portugal

C. Mariano, A. Alves, M. Bourbon

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E134-E135

APOB/APOA-I ratio, and major cardiovascular risk factors in Azores and Lisbon populations – A comparison study

R. Ferin, A. Lima, J. Baptista, A. Alves, M. Bourbon, M. Pavão

Atherosclerosis, vol. 241(1), 2015 Jul 1, pp. E138

Novel LDLR variants in Ibero-America: preliminary molecular results of familial hypercholesterolaemia in Ibero-America

S. Azevedo, V. Bañares, L. Schreier, A. Vázquez, A. Medeiros, A. Alves, M. Bourbon

Atherosclerosis, vol. 241(1), 2015 Jul 1

Exome sequencing reveals novel functional mutations in APOB causing Familial Hypercholesterolaemia

A. Alves, A. Medeiros, A. Etxebarria, A. Benito-Vicente, César Martín, M. Bourbon

2015 Jun

Development of a Novel Targeted Panel Sequencing Assay to Identify Patients with Familial Hypercholesterolemia

A. Medeiros, C. Silva, Luís Vieira, M. Bourbon

2015 Jun

Genetic Screening of Familial Hypercholesterolemia in Portugal

A. Medeiros, A. Alves, M. Bourbon

2015 May

Prevalence of Cardiovascular Risk Factors in a Sample from the Portuguese Population – an Analysis of e_COR Study

C. Alves, Mariano Cibelle, Rato Quitéria, Bourbon Mafalda

2015 May

Association Between BMI and Blood Lipids in a Portuguese Population – an Analysis of the e_COR Study

M. Siopa, C. Alves, Q. Rato, P. Aguiar, M. Bourbon

2015 May

Genotype/phenotype of FH patients: differences in childhood and adulthood

A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis , vol. 235(2), 2014

Prevalence of hepatic steatosis in the general Portuguese population: using fatty liver index (FLI) and ultrasound

S. Carvalhana, J. Leitão, A. P. Silva, C. Alves, M. Bourbon, Armando Carvalho, H. Cortez‐Pinto

2014 Oct 18

Good correlation between plasma cytokeratin-18 and controlled attenuation parameter (CAP) in healthy population

S. Carvalhana, J. Leitão, C. Alves, M. Bourbon, H. Cortez‐Pinto

2014 Oct 18

“Normal” controlled attenuation parameter (CAP) values: a population-based study of healthy subjects

S. Carvalhana, J. Leitão, C. Alves, M. Bourbon, H. Cortez‐Pinto

2014 Oct 18

HCV and HBV prevalence in the population: Large disparity between Hepatitis C in the general population, comparing with high risk groups

S. Carvalhana, Rui Pinto, J. Leitão, A. P. Silva, C. Alves, M. Bourbon, Armando Carvalho, H. Cortez‐Pinto

2014 Oct 18

Hepatitis B serologic markers after 14 years of universal new-born vaccination

S. Carvalhana, Rui Pinto, J. Leitão, A. P. Silva, C. Alves, M. Bourbon, Armando Carvalho, H. Cortez‐Pinto

2014 Oct 18

In silico classification of LDLR variants leads to misdiagnosis of FH patients – validation of a novel criteria

A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E197

Genotype/phenotype of FH patients: differences in childhood and adulthood

A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E197

Radioactivity assay vs. cytometry: a comparison study for ldlr functionality determination

A. Benito-Vicente, A. Etxebarria, A. Alves, M. Bourbon, C. Martin

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E177

Differences in secondary structure of p.arg1164thr and p.gln4494del, two novel ApoB-100 mutants

A. Etxebarria, J. Fernández-Higuero, A. Benito-Vicente, A. Alves, M. Bourbon, H. Ostolaza, César Martín

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E44

Apob/apoa1 ratio improves clinical criteria sensitivity for the identification of fh children

A. Medeiros, A. Alves, P. Aguiar, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E64

Inverse correlation between homocysteine and HDL-C

A. R. Manaças, A. Alves, Q. Rato, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E196

Determination of the atherogenic profile improves patient stratification

A. R. Manaças, Salima Jamal, A. Alves, Q. Rato, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E286

Cardiovascular risk factors in a young adult population

J. Canilho, A. Alves, Q. Rato, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E286-E287

Wine consumption and blood lipids in a portuguese population

M. Siopa, C. Alves, Q. Rato, P. Aguiar, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E270

sdLDL/LDL ratio in familial combined hyperlipidaemia patients and familial hypercholesterolemia patients

S. Jamal, A. Alves, A. Medeiros, M. Bourbon

Atherosclerosis, vol. 235(2), 2014 Aug 1, pp. E196

Genotype-phenotype correlation in Portuguese patients with Familial Hypercholesterolemia

A. Medeiros, A. Alves, M. Bourbon

Drug Metabolism and Drug Interactions, vol. 28(3), 2013

APOB: old gene, new perspective for Familial Hypercholesterolaemia

A. Alves, A. Etxebarria, C. Martin, M. Bourbon

2013 Jun 2

Extended characterization of lipidic profile: evaluation of lipoprotein subfractions

F. Leitão, S. Berguete, T. Santos, A. Gomes, M. Bourbon

2013 Jun 2

Pathogenicity assessment of LDLR variant: a contribution for the correct management of Familial Hypercholesterolemia

A. Medeiros, A. Alves, A. Extebarria, César Martín, M. Bourbon

vol. 32, 2013 Apr 26

Exome sequencing of Familial Hypercholesterolemia patients: unique alterations in cholesterol related genes analysis

A. Alves, M. Bourbon

2012

Functional studies of LDLR mutations

A. Alves, S. Silva, D. Patel, Malhó Rui, A. Soutar, M. Bourbon

Revista Portuguesa de Cardiologia, 31(Espec Congr), 2012, pp. 209-221

In silico versus in vitro analysis of LDLR mutations

A. Alves, S. Silva, D. Patel, R. Malhó, A. Soutar, M. Bourbon

2012

The impact of cascade screening in familial hypercholesterolemia diagnosis

A. Gomes, A. Medeiros, F. Leitão, A. Alves, M. Bourbon

2012

Portuguese experience on cascade screening of index patients with FH

A. Medeiros, A. Alves, F. Leitão, M. Bourbon

Revista Portuguesa de Cardiologia, vol. 31, 2012

Portuguese Familial Hypercholesterolemia Study: 13 years of results

A. Medeiros, A. Alves, M. Bourbon

2012

Inherited Dyslipidemia VS Environmental Dyslipidemia in Portuguese Children

A. Medeiros, A. Alves, M. Bourbon

2012

Cardiovascular risk assessment of pediatric dyslipidemic patients

A. Medeiros, A. Alves, M. Bourbon

2012

Cascade Screening in Familial Hypercholesterolemia importance in early detection

F. Leitão, A. Medeiros, S. Berguete, A. Alves, M. Bourbon

2012

To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteria

A. Alves, A. Medeiros, S. Berguete, M. Bourbon

2012 Jun 25

Is the clinical criteria important for patient identification in FH patients?

A. Alves, A. Medeiros, S. Berguete, M. Bourbon

2012 Jun 8

Cardiovascular Risk of Children With Clinical Diagnosis of Familial Hypercholesterolemia

A. Alves, A. Medeiros, M. Bourbon

2011

Correlation between lipid profile / cardiovascular risk and type of mutation in Portuguese patients with familial hypercholesterolemia

A. Alves, A. Medeiros, M. Bourbon

European Journal of Human Genetics, vol. 19(Suppl 2), 2011

Resequencing LDLR and APOB genes in patients with a clinical diagnosis of Familial Hypercholesterolaemia based on next-generation sequencing

A. Alves, M. Bourbon

2011

Genetic basis of familial hypercholesterolaemia

A. Alves, M. Bourbon

American Journal of Human Genetics, vol. 89(suppl), 2011

Influence of different type of mutations in the biochemical profile of Portuguese patients with familial hypercholesterolemia

A. Medeiros, A. Alves, M. Bourbon

2011

Milder phenotype of relatives of index patients can misdiagnose Familial Hypercholesterolemia

A. Medeiros, A. Alves, M. Bourbon, on behalf of the Investigators of the Portuguese FH Study

Atherosclerosis Supplements, vol. 12(1), 2011, p. 16

Portuguese Familial Hypercholesterolemia Study

A. Medeiros, A. Alves, V. Francisco, M. Bourbon

2011

Lifestyle Habits and Cardiovascular Risk Factors in a Young Population

A. Medeiros, T. Rocha, V. Francisco, A. Alves, T. Santos, M. Louro, C. Gonçalves, M. Bourbon

2011

Influence of LPL, APOAIV, APOAV, APOCIII and USF1 polymorphisms in a Portuguese population with clinical diagnosis of Familial Combined Hyperlipidaemia

T. Santos, Q. Rato, I. Gaspar, M. Bourbon

2011

Complete sequencing of APOB gene of patients with clinical diagnosis of Familial Hypercholesterolaemia

A. Alves, M. Bourbon

Atherosclerosis Supplements, vol. 12(1), 2011 Jun, p. 15

Complete sequencing by Pyrosequencing of APOB gene of patients with clinical diagnosis of Familial Hypercholesterolaemia

A. Alves, M. Bourbon

Atherosclerosis Supplements, vol. 12(1), 2011 Jun, p. 15

Determination of sdLDL particles in patients with Familial Hypercholesterolaemia and Familial Combined Hyperlipidaemia

A. Gomes, T. Santos, M. Bourbon

Atherosclerosis Supplements, vol. 12(1), 2011 Jun, p. 23

Influence of APOE genotype in the phenotype of clinical diagnosed Portuguese FH Patients

A. Medeiros, T. Santos, A. Alves, M. Bourbon, on behalf of the Investigators of the Portuguese FH Study

Atherosclerosis Supplements, vol. 12(1), 2011 Jun, p. 19

Update of the biochemical and molecular results of Portuguese patients with Familial Combined Hyperlipidaemia

T. Santos, Q. Rato, I. Gaspar, M. Rico, J. M. Silva, M. Bourbon

Atherosclerosis Supplements, vol. 12(1), 2011 Jun, p. 22

Portuguese Familial Hypercholesterolaemia Study: Finding the genetic defect to prevent premature cardiovascular disease

A. Medeiros, A. Alves, S. Silva, V. Francisco, M. Bourbon

Atherosclerosis Supplements, vol. 11(2), 2010 Jun, p. 131

Molecular study of LPL, APOAIV, APOAV, APOCII and APOCIII genes in patients with Hypertriglyceridemia

T. Santos, A. Gaspar, I. Gaspar, Q. Rato, M. Bourbon

Atherosclerosis Supplements, vol. 11(2), 2010 Jun, pp. 125-126

Preliminary biochemical and molecular results of Portuguese Familial Combined Hyperlipidaemia patients

T. Santos, Q. Rato, A. Guerra, I. Gaspar, M. Bourbon

Atherosclerosis Supplements, vol. 11(2), 2010 Jun, p. 122

Familial Hypercholesterolaemia: A perspective of 10 years of study in Portugal

A. Alves, A. Medeiros, V. Francisco, M. Bourbon

Atherosclerosis Supplements, vol. 10(2), 2009 Jun, pp. e1219

Molecular study of Familial Lipoprotein Disorders

T. Santos, Q. Rato, M. Bourbon

Atherosclerosis Supplements, vol. 10(2), 2009 Jun, pp. e1220

Functional analysis of potencial splice site mutations in the LDLR gene

M. Bourbon, A. Alves, M. A. Duarte, A. Medeiros, A. Soutar

Atherosclerosis Supplements, vol. 9(1), 2008 May, p. 21

Molecular characterization of Familial Hypercholesterolaemia in Portuguese patients

A. Medeiros, A. Alves, S. Silva, M. Bourbon

Atherosclerosis Supplements, vol. 8(1), 2007 Jun, p. 214

Functional characterization of point mutations in the LDLR gene found in Portuguese patients with clinical diagnosis of Familial HypercholesterolaemiaIA

S. Silva, D. Patel, M. Bourbon, A. Soutar

Atherosclerosis Supplements, vol. 8(1), 2007 Jun, p. 213

Mutation detection in LDLR gene by DHPLC and sequencing

A. Alves, A. Soutar, M. Bourbon

Atherosclerosis Supplements, vol. 7(3), 2006, p. 136

Molecular study of familial hypercholesterolemia in Portugal

M. Bourbon, A. Alves, A. Medeiros, S. Silva, A. Soutar

Atherosclerosis Supplements, vol. 7(3), 2006, p. 131

Clinical characteristics of portuguese patients with a clinical diagnosis of familial hypercholesterolaemia

M. Bourbon, A. Alves, J. M. Silva, Q. Rato, P. Silva, I. Azevedo, A. Furtado, R. Naoumova

vol. 7(3), 2006, p. 545

Factors determining inter-individual variability of response to statin therapy

R. Naoumova, F. O'Neill, M. Bourbon, C. Neuwirth, D. Patel, B. Knight, M. Axelson, G. Thompson

2000

Factors determining inter-individual variability of response to statin therapy

R. Naoumova, F. O'Neill, M. Bourbon, C. Neuwirth, D. Patel, B. Knight, M. Axelson, G. Thompson

Atherosclerosis, vol. 151(1), 2000 Jul 1, p. 50