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Publications for mvpimentel
(56)
2025
Scores de risco genético para valores lipídicos em indivíduos com fenótipo de Hipercolesterolemia Familiar
(2025)
Nogueira, Mariana Ferreira
Bourbon, Mafalda
Chora, Joana Rita Gaspar de Barros Martinho
Academic documents
2025
Variantes no gene APOB associadas a hipobetalipoproteinemia e hipercolesterolemia familiar : estudos funcionais e relação genótipo/fenótipo
(2025)
Rato, Inês de Carvalho Santos
Alves, Ana Catarina
Bourbon, Mafalda
Academic documents
2025
Estudos funcionais de variantes no gene APOB em doentes com diagnóstico clínico de Hipercolesterolemia Familiar
(2025)
Ramos, Diana Catarina Fernandes
Bourbon, Mafalda
Alves, Ana Catarina
Academic documents
2024
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
(2024)
Javier de las Heras et al., with 18 authors including:
Mafalda Bourbon
Other
2024
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
(2024)
Janneke W. C. M. Mulder et al., with 198 authors including:
Mafalda Bourbon
Journal articles
2024
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
(2024)
Ana Margarida Medeiros et al., with 99 authors including:
Joana Rita Chora
Mafalda Bourbon
Journal articles
2024
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
(2024)
Kanika Inamdar Dharmayat et al., with 485 authors including:
Mafalda Bourbon
Journal articles
2024
Functional studies of PCSK9 promotor variants
(2024)
Mateus, Ana Margarida Ramos
Bourbon, Mafalda
Lacerda, Rafaela
Academic documents
2024
Functional genomics in familial dyslipidaemia
(2024)
Graça, Rafael José Ferreira Nunes
Bourbon, Mafalda
Pepperkok, Rainer
Academic documents
2024
Novel genetic strategies for the characterization of Familial Hypercholesterolemia phenotype
(2024)
Ana Margarida Cabeleira Medeiros
Mafalda Bourbon
Francisco J. Enguita
Ana Catarina Alves
Academic documents
2023
The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus: Proteomic and Quantitative PCR Analysis
(2023)
Rebeca André et al., with 6 authors including:
Rita Pacheco
Ana Catarina Alves
Mafalda Bourbon
Maria Luísa Serralheiro
Journal articles
2023
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
(2023)
Ana Catarina Alves et al., with 10 authors including:
Ana Catarina Alves
Mafalda Bourbon
Journal articles
2023
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
(2023)
Gustavs Latkovskis et al., with 13 authors including:
Joana Rita Chora
Mafalda Bourbon
Journal articles
2023
High-Throughput Microscopy Characterization of Rare LDLR Variants
(2023)
Rafael Graça
Magdalena Zimon
Ana C. Alves
Rainer Pepperkok
Mafalda Bourbon
Journal articles
2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
(2023)
Marina Cuchel et al., with 33 authors including:
Mafalda Bourbon
Joana R. Chora
Journal articles
2023
Personalized Medicine in Familial Hypercholesterolemia : diagnosis, stratification of cardiovascular disease risk and lipid therapy management
(2023)
Chora, Joana Rita Gaspar de Barros Martinho
Bourbon, Mafalda
Antunes, Marília Cristina de Sousa
Academic documents
2023
Molecules for health : cholesterol absorption and transporter proteins expression under the effect of bioactive molecules
(2023)
André, Rebeca Alexandra Oliveira Esperança
Serralheiro, Maria Luísa Mourato de Oliveira Marques
Bourbon, Mafalda
Santos, Hugo Miguel Baptista Carreira dos
Academic documents
2022
Functional profiling of LDLR variants: Important evidence for variant classification
(2022)
Rafael Graça
Ana Catarina Alves
Magdalena Zimon
Rainer Pepperkok
Mafalda Bourbon
Journal articles
2022
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
(2022)
Joana R. Chora et al., with 28 authors including:
Joana R. Chora
Mafalda Bourbon
Journal articles
2022
Molecular study of Familial Dyslipidaemias by Next Generation Sequencing
(2022)
Miranda, Beatriz de Carvalho Vieira Raposo
Bourbon, Mafalda
Alves, Ana Catarina
Academic documents
2022
Identification of novel biomarkers and candidate genes associated to lipid traits : improving the lipid metabolism knowledge base
(2022)
Correia, Marta Sofia da Silva
Carvalho, Margarida Gama
Bourbon, Mafalda
Academic documents
2020
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
(2020)
Cibelle Mariano et al., with 8 authors including:
Marília Antunes
Mafalda Bourbon
Journal articles
2020
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
(2020)
Uma Ramaswami et al., with 15 authors including:
Mafalda Bourbon
Journal articles
2020
u0RF - mediated translational regulation of PERK: implications for cell homeostasis and human disease
(2020)
Rafael Queirós Fernandes
Luísa Romão
Mafalda Bourbon
Academic documents
2019
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
(2019)
Poulabi Banerjee et al., with 12 authors including:
Mafalda Bourbon
Journal articles
2019
What Is the Role of the New Index Relative Fat Mass (RFM) in the Assessment of Nonalcoholic Fatty Liver Disease (NAFLD)?
(2019)
Mariana V. Machado et al., with 12 authors including:
Mafalda Bourbon
Journal articles
2019
Hypercysteinemia, A Potential Risk Factor for Central Obesity and Related Disorders in Azores, Portugal
(2019)
Ana Lima
Rita Ferin
Mafalda Bourbon
José Baptista
M. Leonor Pavão
Journal articles
2019
Genomics of familial hypercholesterolaemia
(2019)
Ana C. Alves
Joana R. Chora
Mafalda Bourbon
Journal articles
2019
Tackling the molecular basis of lipid metabolism: from candidate genes testing in a disease cohort to multi-omics approaches in unselected populations
(2019)
Rossi, Niccoló
Bourbon, Mafalda
Falchi, Mário
Academic documents
2019
Classification methods applied to familial hypercholesterolemia diagnosis in pediatric age
(2019)
João David Ferreira de Castro e Albuquerque
Antunes, Marília Cristina de Sousa
Bourbon, Mafalda
Academic documents
2018
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
(2018)
Antonio J. Vallejo-Vaz et al., with 85 authors including:
Mafalda Bourbon
Journal articles
2018
Clinical Genetic Testing for Familial Hypercholesterolemia
(2018)
Amy C. Sturm et al., with 32 authors including:
Mafalda Bourbon
Journal articles
2018
Biochemical and molecular characterisation of the dyslipidaemia in Portugal
(2018)
Cibelle Neiva Cavalcanti Mariano da Costa
Mafalda Bourbon
Marília Antunes
Academic documents
2017
Clinical and molecular characterization of portuguese patients with a clinical diagnosis of MODY
(2017)
João Paulo De Medeiros Gomes De Mafra
Bourbon, Mafalda
Academic documents
2017
Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela
(2017)
Marcos M. Lima-Martínez et al., with 10 authors including:
Mafalda Bourbon
Journal articles
2017
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry
(2017)
Mafalda Bourbon et al., with 7 authors including:
Mafalda Bourbon
Ana Catarina Alves
Journal articles
2017
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
(2017)
Joana Rita Chora et al., with 9 authors including:
Joana Rita Chora
Ana Catarina Alves
Mafalda Bourbon
Journal articles
2017
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina
(2017)
Virginia G. Bañares et al., with 10 authors including:
Mafalda Bourbon
Journal articles
2017
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
(2017)
Raul D. Santos et al., with 22 authors including:
Mafalda Bourbon
Ana Catarina Alves
Journal articles
2016
Familial hypercholesterolaemia: molecular and functional study of LDLR mutations
(2016)
Pereira, Andreia Sofia Pinto
Bourbon, Mafalda
Academic documents
2016
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
(2016)
Antonio J. Vallejo-Vaz et al., with 72 authors including:
Mafalda Bourbon
Journal articles
2016
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement
(2016)
Medeiros AM
Alves AC
Bourbon M
Journal articles
2015
Structural analysis of APOB variants, p Arg3527Gln, p Arg1164Thr and p Gln4494del, causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity
(2015)
Fernández-Higuero JA et al., with 8 authors including:
Bourbon M
Journal articles
2015
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and its Specific Treatment with Alirocumab, a PCSK9 Monoclonal Antibody
(2015)
Paul N. Hopkins et al., with 42 authors including:
Mafalda Bourbon
Journal articles
2015
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
(2015)
Asier Benito-Vicente et al., with 6 authors including:
Ana Catarina Alves
Mafalda Bourbon
Journal articles
2015
Familial hypercholesterolaemia: A global call to arms
(2015)
Antonio J. Vallejo-Vaz et al., with 47 authors including:
Mafalda Bourbon
Journal articles
2014
Cardiovascular risk profile of high school students - a cross-sectional study
(2014)
Rocha T et al., with 10 authors including:
Bourbon M
Journal articles
2014
How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population - correlation with ultrasound
(2014)
Carvalhana S
Leitão J
Alves AC
Bourbon M
Cortez-Pinto H
Journal articles
2014
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment
(2014)
Etxebarria A et al., with 6 authors including:
Alves AC
Bourbon M
Journal articles
2014
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
(2014)
Alves AC
Etxabarria A
Soutar AK
Martin C
Bourbon M
Journal articles
2014
Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia
(2014)
Medeiros AM
Alves AC
Aguiar P
Bourbon M
Journal articles
2014
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands-Portugal
(2014)
Cymbron T et al., with 9 authors including:
Bourbon M
Journal articles
2013
Estudo sobre a prevalência de fatores de risco cardiovascular numa amostra de adultos da Região de Lisboa
(2013)
Duarte, Elisete Guerreiro
Bourbon, Mafalda
Vale, Ana Filipa
Academic documents
2012
Estudo molecular de dislipidemias familiares
(2012)
Coelho, Sara Andreia Paninho Berguete
Bourbon, Mafalda
Rebelo, Maria Teresa Ferreira Ramos Nabais de Oliveira
Academic documents
2012
Estudo bioquímico e molecular de famílias com hipercolesterolemia familiar
(2012)
Leitão, Flávia Raquel Gameiro
Bourbon, Mafalda
Crespo, Ana Maria Viegas
Academic documents
2008
Estudos funcionais para determinação da patogenicidade de novas mutações no gene LDLR:diagnóstico e caracterização molecular da hipercolesterolemia familiar
(2008)
Silva, Sónia Cristina Pinela da
Bourbon, Mafalda
Correia, Maria do Céu
Academic documents