Conference poster |
- Nogueira, Mariana; Medeiros, Ana Margarida; Miranda, Beatriz; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda. "Unravelling
the relationship between lipoprotein(a) levels and familial hypercholesterolemia phenotype.". Paper presented in XXXII
Congresso Português de Aterosclerose, 2024.
- Miranda, Beatriz; Medeiros, AM; Alves, AC; Bourbon, Mafalda. "LDLR activity and cardiovascular burden in Portuguese families
with Familial Hypercholesterolemia". Paper presented in 27ª Reunião Anual da Sociedade Portuguesa de Genética Humana (CSPGH),
2023.
- Ferreira, Maria; Chora, Joana Rita; Medeiros, Ana Margarida; Bourbon, Mafalda; Alves, Ana Catarina. "Functional Studies of
APOB variants - the experience of the Portuguese Familial Hypercholesterolemia Study". Paper presented in 91st European
Atherosclerosis Society Congress, 2023.
- Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Clinical and genetic
characteristics of patients with a clinical diagnosis of Familial Hypercholesterolemia in Portugal". Paper presented in Congresso
Português de Cardiologia, 2023.
- Ferreira, Maria; Chora, Joana Rita; Medeiros, Ana Margarida. "APOB Variants - the experience of the Portuguese Familial Hypercholesterolemia
Study". Paper presented in 4ª Reunião do Núcleo de Estudos de Prevenção e Risco Vascular, 2022.
- Medeiros, AM; Alves, AC; Chora, JR; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar: 1999-2020". Paper
presented in XXIX Congresso Português de Aterosclerose, 2021.
- Abrantes, L. B.; Alves, A. C.; Medeiros, Ana; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; et al. "Characterization
of pediatric patients from Portuguese FH study". Paper presented in Second EAS Pediatric Familial Hypercholesterolemia
Symposium, Lisbon, Portugal, 2018.
- Graça, R.; Abrantes, L. B.; Rossi, N.; Alves, A. C.; Medeiros, Ana; Zimon, M.; Rausch, T.; et al. "The importance to track
variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case.". Paper presented in 86th
European Atherosclerosis Society Congress, Lisbon, Portugal, 2018.
- Chora, J. R.; Medeiros, Ana; Alves, A. C.; Bourbon, M.. "LDLR, APOB and PCSK9 variant interpretation in Familial Hypercholesterolaemia:
application of ACMG guidelines". Paper presented in 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana. Almada,
Portugal, 2017.
- Chora, J. R.; Alves, A. C.; Medeiros, Ana; Bourbon, M.. "ACMG classification of variants in LDLR gene found in patients with
a clinical diagnosis of Familial Hypercholesterolaemia". Paper presented in The European Human Genetics Conference 2017.
Copenhagen, Denmark, 2017.
- Chora, J. R.; Medeiros, Ana; Alves, A. C.; Bourbon, M.. "LDLR, APOB and PCSK9 variants associated with Familial Hypercholesterolaemia:
application of ACMG guidelines for variant interpretation". Paper presented in 2º Dia do Jovem Investigador do Instituto
Ricardo Jorge. INSA Lisbon, 2017.
- Medeiros, Ana; Alves, A. C.; Bourbon, M.. "APOB/APOA1 ratio and APOC2 are the best biomarkers to distinguish Familial Hypercholesterolemia
from other dyslipidaemia". Paper presented in 85th European Atherosclerosis Society Congress, Prague, Czech Republic,
2017.
- Chora, J. R.; Alves, A. C.; Medeiros, Ana; Bourbon, M.. "Systematic review of LDLR mutations associated to Familial hypercholesterolaemia:
evidence of functional studies and application of ACMG guidelines for FH diagnosis". Paper presented in 85th European Atherosclerosis
Society Congress, Prague, Czech Republic, 2017.
- Alves, A. C.; Medeiros, Ana; Padeira, G.; Ferreira, A. C.; Bourbon, M.. "Sitosterolaemia: a case of rare hypercholesterolaemia
in FH patient's cohort". Paper presented in 85th European Atherosclerosis Society Congress, Prague, Czech Republic,
2017.
- Marcos M. Lima-Martínez; Mariela Paoli; Alejandra Vázquez-Cárdenas; María Teresa Magaña-Torres; Ornella Guevara; María Carolina
Muñoz; Medeiros, Ana Margarida; Mafalda Bourbon. "Frecuencia, aspectos clínicos y moleculares de la Hipercolesterolemia Familiar
en una unidad de endocrinologia de Ciudad Bolívar, Venezuela". Paper presented in XVIII Congreso Venezolano de Endocrinología
y Metabolismo, Caracas, Venezuela, 2017.
- Padeira, G.; Gomes, I.; Correia, C.; Valongo, C.; Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.; Ferreira, A. C.. "Complex
phenotype of Hypercholesterolaemia in a family with both ABCG8 and APOB mutations". Paper presented in 13th International
Symposium of the SPDM, Évora, Portugal, 2017.
- Padeira, G.; Garcia, A. M.; Conde, M.; Carvalho, R.; João, A.; Gomes, I.; Correia, C.; et al. "Sitosterolémia: uma causa rara
de hipercolesterolemia". Paper presented in 17º Congresso Nacional de Pediatria, Porto, Portugal, 2016.
- Garcia, A. M.; Padeira, G.; Conde, M.; Carvalho, R.; João, A.; Gomes, I.; Bosquet Lucas, G.; et al. "Sitosterolémia - uma
causa rara de uma situação comum". Paper presented in 2º Congresso da Área de Pediatria Médica, Lisboa, Portugal, 2016.
- Azevedo, S.; Chora, J. R.; Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "Construction of a new familial hypercholesterolaemia
variant data base: a systematic review for a 2015 update". Paper presented in 84th Congress of the European Atherosclerosis
Society, Innsbruck, Austria, 2016.
- Pereira, A.; Alves, A. C.; Medeiros, Ana Margarida; Mariano, C.; Bourbon, M.. "Using percentiles to diagnose Familial Hypercholesterolemia
in Portugal". Paper presented in 84th Congress of the European Atherosclerosis Society, Innsbruck, Austria, 2016.
- Alves, A. C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, Ana Margarida; Martin, C.; Bourbon, M..
"Functionally characterization of LDLR missense alterations found in clinical FH patients". Paper presented in 84th Congress
of the European Atherosclerosis Society, Innsbruck, Austria, 2016.
- Chora, J. R.; Mata, P.; Santos, R.; Cárdenas Vázquez, A.; Stoll, M.; Schreier, L.; Cuevas, A.; et al. "Genetic analysis of
Familial Hypercholesterolaemia in Iberoamerican countries". Paper presented in 84th Congress of the European Atherosclerosis
Society, Innsbruck, Austria, 2016.
- Chora, J. R.; Alves, A. C.; Medeiros, Ana Margarida; Mariano, C.; Loubarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, M..
"Will familial hypercholesterolaemia cohorts hide many more lisosomal acid lipase deficiency patients?". Paper presented in
84th Congress of the European Atherosclerosis Society, Innsbruck, Austria, 2016.
- Bañares, V. G.; Alves, A. C.; Alonso, R.; Jannes, C.; Medeiros, Ana Margarida; Corral, P.; DellOca, N.; et al. "Composición
genética de la Hipercolesterolemia Familiar en Argentina en relación a los países de la Red Iberoamericana de HF". Paper presented
in LX Reunión de la Sociedad Argentina de Investigación Clínica (SAIC), Reunión Anual de la Sociedad Argentina de Fisiología
(SAFIS), Mar del Plata, Argentina, 2015.
- Azevedo, S.; Alves, A. C.; Medeiros, Ana Margarida; Martin, C.; Bourbon, M.. "LDLR functional in vitro assays: a step forward
for the correct genetic diagnosis of familial hypercholesterolaemia". Paper presented in The European Human Genetics Conference
2015, Glasgow, Scotland, UK, 2015.
- Alves, A. C.; Medeiros, Ana Margarida; Extebarria, A.; Benito-Vicente, A.; Martin, C.; Bourbon, M.. "Exome sequencing reveals
novel functional mutation in APOB causing Familial Hypercholesterolaemia". Paper presented in The European Human Genetics
Conference 2015, Glasgow, Scotland, UK, 2015.
- Medeiros, Ana Margarida; Silva, C.; Vieira, L.; Bourbon, M.. "Development of a Novel Targeted Panel Sequencing assay to identify
patients with Familial Hypercholesterolemia". Paper presented in The European Human Genetics Conference 2015, Glasgow,
Scotland, UK, 2015.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Portugal. Genetic Screening of Familial Hypercholesterolemia in Portugal".
Paper presented in EuroPRevent 2015, Lisbon, Portugal, 2015.
- Medeiros, Ana Margarida; Alves, A.C.; Bourbon, M.; Alves, A. C.. "Mutational Analysis of the Portuguese Cohort with Clinical
Diagnosis of FH". Paper presented in 83rd European Atherosclerosis Society Congress, Glasgow, UK, 2015.
- Azevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Novel LDLR variants
in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in Iberoamerica". Paper presented in 83rd
European Atherosclerosis Society Congress, Glasgow, UK, 2015.
- Moldovan, O.; Alves, A. C.; Medeiros, Ana Margarida; Sousa, A. B.; Bourbon, M.. "Dunnigan-type familial partial lipodystrophy
in a large Portuguese kindred". Paper presented in 83rd European Atherosclerosis Society Congress, Glasgow, UK, 2015.
- Sequeira, S.; Alves, A. C.; Medeiros, Ana Margarida; Ferreira, A. C.; Moldovan, O.; Bourbon, M.. "Dunnigan Syndrome - An unusual
cause of severe and premature cardiovascular events". Paper presented in 11th International Symposium SPDM, Porto,
2015.
- Moldovan, O.; Alves, A. C.; Medeiros, Ana Margarida; Sousa, A. B.; Bourbon, M.. "Dunnigan-type familial partial lipodystrophy
in a large Portuguese kindred". Paper presented in 18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Lisboa,
Portugal, 2014.
- Jamal, S.; Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "sdLDL/LDL ratio in patients with Familial Combined Hyperlipidaemia
and Familial Hypercholesterolaemia". Paper presented in 82nd Congress of the European Atherosclerosis Society, Madrid,
Spain, 2014.
- Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "In silico classification of LDLR variants leads to misdiagnosis of FH
patients". Paper presented in 82nd Congress of the European Atherosclerosis Society, Madrid, Spain, 2014.
- Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "Genotype/phenotype of FH patients: differences in childhood and adulthood".
Paper presented in 82nd Congress of the European Atherosclerosis Society, Madrid, Spain, 2014.
- Medeiros, Ana Margarida; Alves, A. C.; Aguiar, P.; Bourbon, M.. "Cardiovascular risk assessment of dyslipidemic children:
analysis of biomarkers for the correct assessment of monogenic dyslipidemia". Paper presented in XXXV Congresso Português
de Cardiologia, Albufeira, Portugal, 2014.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Genotype-phenotype correlation in Portuguese patients with Familial Hypercholesterolemia".
Paper presented in European Society of Pharmacogenomics and Theranostics Conference. Lisboa, Portugal, 2013.
- Medeiros, Ana Margarida; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.. "Pathogenicity assessment of LDLR variants
in patients with Familial Hypercholesterolemia". Paper presented in 81th Congress of the European Atherosclerosis Society,
Lyon, Fance, 2013.
- Medeiros, Ana Margarida; Alves, A. C.; Etxebarria, A.; Martin, C.; Bourbon, M.. "Pathogenicity assessment of LDLR variants:
a contribution for the correct management of Familial Hypercholesterolemia". Paper presented in XXXIV Congresso Português
de Cardiologia, Vilamoura, Portugal, 2013.
- Leitão, F.; Medeiros, Ana Margarida; Berguete, S.; Alves, A. C.; Bourbon, M.. "Cascade screening in familial hypercholesterolemia:
importance in early detection". Paper presented in 16ª Reunião da Sociedade Portuguesa de Genética Humana, Porto, Portugal,
2012.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Portuguese familial hypercholesterolemia study: an experience over 13
years". Paper presented in 16ª Reunião da Sociedade Portuguesa de Genética Humana, Porto, Portugal, 2012.
- Medeiros, Ana Margarida; Leitão, F.; Alves, A. C.; Bourbon, M.. "O método de Cascade Screening na identificação de doentes
com Hipercolesterolemia Familiar". Paper presented in 13º Congresso Nacional de Pediatria, Troia, Portug, 2012.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Dislipidemia hereditária vs dislipidemia ambiental em crianças portuguesas".
Paper presented in 13º Congresso Nacional de Pediatria, Troia, Portugal, 2012.
- Medeiros, Ana Margarida; Alves, A. C.; Leitão, F.; Bourbon, M.. "Cascade screening of portuguese patients with familial hypercholesterolaemia".
Paper presented in 80th Congress of the European Atherosclerosis Society, Milan, Italy, 2012.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Cardiovascular risk assessment of pediatric dyslipidemic patients". Paper
presented in 80th Congress of the European Atherosclerosis Society, Milan, Italy, 2012.
- Alves, A. C.; Medeiros, Ana Margarida; Berguete, S.; Bourbon, M.. "To have or not to have familial hypercholesterolaemia,
that is the question: genetic and different clinical criteria". Paper presented in 80th Congress of the European Atherosclerosis
Society, Milan, Italy, 2012.
- Alves, A. C.; Medeiros, Ana Margarida; Buerguete, S.; Bourbon, M.. "Is the clinical criteria important for patient identification
in FH patients". Paper presented in 1st International Conference on Familial Hypercholesterolaemia in Children & Adolescents,
Athens, Greece, 2012.
- Gomes, A.; Medeiros, Ana Margarida; Leitão, F.; Alves, A. C.; Bourbon, M.. "The impact of cascade screening in familial hypercholesterolaemia
patient identification". Paper presented in 1st International Conference on Familial Hypercholesterolaemia in Children
& Adolescents, Athens, Greece, 2012.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Inherited dyslipidemia vs environmental dyslipidemia in portuguese children".
Paper presented in 1st International Conference on Familial Hypercholesterolaemia in Children & Adolescents, Athens, Greece,
2012.
- Medeiros, Ana Margarida; Alves, A. C.; Leitão, F.; Bourbon, M.. "Portuguese experience on cascade screening of index patients
with FH". Paper presented in XXXIII Congresso Português de Cardiologia, Vilamoura, Portugal, 2012.
- Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Influence of different type of mutations in the biochemical profile of
Portuguese patients with familial hypercholesterolemia". Paper presented in 15ª Reunião da Sociedade Portuguesa de Genética
Humana, Lisboa, Portugal, 2011.
- Medeiros, Ana Margarida; Alves, A. C.; Francisco, F.; Bourbon, M.. "Portuguese Familial Hypercholesterolemia Study". Paper
presented in 9th International Congress on Coronary Artery Disease. Veneza, Itália, 2011.
- Alves, A.C.; Medeiros, Ana Margarida; Gomes, A.; Bourbon, M.. "Caracterização bioquímica e molecular de doentes com hipercolesterolemias
genéticas". Paper presented in 19º Congresso Português de Aterosclerose, Évora, Portugal, 2011.
- Medeiros, Ana Margarida; Alves, A. C.; Santos, T.; Bourbon, M.. "A Hipercolesterolemia Familiar em crianças: Resultados do
Estudo Português de Hipercolesterolemia Familiar". Paper presented in 12º Congresso Nacional de Pediatria, Albufeira, Portugal,
2011.
- Medeiros, Ana Margarida; Rocha, T.M.; Francisco, V.; Alves, A. C.; Santos, T.; Louro, M. H.; Gonçalves, C.; Bourbon, M.. "Lifestyle
habits and cardiovascular risk factors in a young population". Paper presented in International Conference on Childhood
Obesity, Lisbon, Portugal, 2011.
- Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "Cardiovascular risk of children with clinical diagnosis of Familial Hypercholesterolemia".
Paper presented in International Conference on Childhood Obesity, Lisbon, Portugal, 2011.
- Medeiros, Ana Margarida; Santos, T.; Alves, A. C.; Bourbon, M.. "Influence of APOE genotype in the phenotype of clinical diagnosed
Portuguese FH patients". Paper presented in 79th European Atherosclerosis Society Congress, Gothenburg, Sweden, 2011.
- Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "Correlation between lipid profile / cardiovascular risk and type of mutation
in Portuguese patients with familial hypercholesterolemia". Paper presented in European Human Genetics Conference. Amsterdam,
Netherlands, 2011.
- Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "Co-relação entre perfil lipídico/risco cardiovascular e tipo de mutação
em doentes com Hipercolesterolemia Familiar". Paper presented in XXXII Congresso Português de Cardiologia, Lisboa, Portugal,
2011.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Francisco, V.; Bourbon, M.. "Portuguese Familial Hypercholesterolaemia Study:
finding the genetic defect to prevent premature cardiovascular disease". Paper presented in 78th Congress of the European
Atherosclerosis Society, Hamburg, Germany, 2010.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Francisco, V.; Bourbon, M.. "Portuguese Familial Hypercholesterolemia Study:
comparison of the effect of LDLR gene mutations in FH patients". Paper presented in European Human Genetics Conference.
Gothenburg, Sweden, 2010.
- Francisco, V.; Alves, A. C.; Medeiros, Ana Margarida; Bourbon, M.. "PCSK9 alterations in patients with Familial Hypercholesterolaemia".
Paper presented in European Human Genetics Conference. Gothenburg, Sweden, 2010.
- Bourbon, M.; Medeiros, Ana Margarida; Alves, A. C.; Francisco, V.; Gaspar, I. M.; Rato, Q.; Gaspar, A.; Guerra, A.. "Clinical
versus molecular diagnosis of Familal Hypercholesterolaemia". Paper presented in EuroPRevent 2010. Prague, Czech Republic,
2010.
- Medeiros, Ana Margarida; Alves, A. C.; Francisco, V.; Bourbon, M.. "Estudo Português de Hipercolesterolemia Familiar". Paper
presented in XI Jornadas de Endocrinologia, Diabetes e Metabolismo do Hospital Egas Moniz. Lisbon, Portugal, 2010.
- Alves, A. C.; Medeiros, Ana Margarida; Francisco, V.; Bourbon, M.. "Bases genéticas da Hipercolesterolemia Familiar". Paper
presented in XXXI Congresso Português de Cardiologia, Vilamoura, Portugal, 2010.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Francisco, V.; Bourbon, M.. "Relação genótipo/fenótipo de doentes portugueses
com Hipercolesterolemia Familiar". Paper presented in XXXI Congresso Português de Cardiologia, Vilamoura, Portugal,
2010.
- Bourbon, M.; Rocha, T.; Francisco, V.; Alves, A. C.; Medeiros, Ana Margarida; Santos, T.; Paixão, E.. "Young Heart – a study
of cardiovascular prevention in schools". Paper presented in EuroPRevent. Stockholm, Sweden, 2009.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Francisco, V.; Bourbon, M.. "Portuguese FH Study: the genetic screening
of Familial Hypercholesterolaemia in Portugal". Paper presented in European Human Genetics Conference. Vienna, Austria,
2009.
- Alves, A. C.; Francisco, V.; Medeiros, Ana Margarida; Marques, L.; Bourbon, M.. "Characterization of potential splice site
mutations in the LDL receptor gene in patients with clinical diagnosis of Familial Hypercholesterolaemia". Paper presented
in European Human Genetics Conference. Vienna, Austria, 2009.
- Rocha, T. M. R.; Paixão, E.; Francisco, V.; Alves, A. C.; Medeiros, Ana Margarida; Santos, T.; Bourbon, M.. "Perfil de risco
cardiovascular de estudantes do ensino secundário". Paper presented in XXX Congresso Português de Cardiologia. Vilamoura,
Portugal, 2009.
- Alves, A. C.; Duarte, M. A.; Medeiros, Ana Margarida; Marques, L.; Francisco, V.; Bourbon, M.. "Functional analysis of potential
splice site mutations by RT-PCR of LDLR mRNA isolated from fresh blood mononuclear cells". Paper presented in European
Human Genetics Conference. Barcelona, Spain, 2008.
- Gaspar, I. M.; Gaspar, A.; Martins, S.; Mourato, A. P.; Lobo Antunes, M.; Aires de Sousa, L.; Cabral, A.; et al. "Familial
hypercholesterolemia: experience from a portuguese genetic department". Paper presented in European Human Genetics Conference.
Barcelona, Spain, 2008.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Francisco, V.; Bourbon, M.. "Update of the Portuguese Familial Hypercholesterolemia
Study". Paper presented in EuroPRevent. Paris, France, 2008.
- Alves, A. C.; Silva, S.; Duarte, M. A.; Patel, D.; Medeiros, Ana Margarida; Soutar, A. K.; Bourbon, M.. "Functional characterization
of missense mutations found in Portuguese patients with a clinical diagnosis of Familial Hypercholesterolemia". Paper presented
in EuroPRevent. Paris, France, 2008.
- Bourbon, M.; Silva, S.; Alves, A. C.; Patel, D.; Duarte, M. A.; Medeiros, Ana Margarida; Soutar, A. K.. "Functional characterization
of missense mutations found in Portuguese patients with a clinical diagnosis of Familial Hypercholesterolemia". Paper presented
in 57th ASHG Annual Meeting. San Diego, CA, 2007.
- Medeiros, Ana Margarida; Alves, A. C.; Silva, S.; Bourbon, M.. "Molecular study of Familial Hypercholesterolaemia in Portugal".
Paper presented in 76th Congress of the European Atherosclerosis Society. Helsinki, Finland, 2007.
- Bourbon, M.; Alves, A. C.; Medeiros, Ana Margarida; Silva, S.; Soutar, A. K.. "Molecular study of Familial Hypercholesterolaemia
in Portugal". Paper presented in XIV International Symposium on Atherosclerosis. Rome, Italy, 2006.
- Medeiros, Ana Margarida; Silva, S.; Alves, A. C.; Bourbon, M.. "Identification of mutations in the Low Density Lipoprotein
receptor gene of patients with Familial Hypercholesterolaemia". Paper presented in Meeting Young Investigator’s Day, INSA.
Lisboa, Portugal, 2006.
- Bourbon, M.; Alves, A. C.; Medeiros, Ana Margarida; Silva, S.; Soutar, A. K.. "Diagnóstico molecular de doentes com Hipercolesterolemia
Familiar". Paper presented in XXVII Congresso Português de Cardiologia. Vilamoura, Portugal, 2006.
|
Journal article |
- Elshorbagy, Amany; Lyons, Alexander R.M.; Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Dharmayat, Kanika I.; Brandts,
Julia; Catapano, Alberico L.; et al. "Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes
in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study". The Lancet Diabetes & Endocrinology
12 11 (2024): 811-823. https://doi.org/10.1016/s2213-8587(24)00221-3.
10.1016/s2213-8587(24)00221-3
- Ana Margarida Medeiros; Ana Catarina Alves; Beatriz Miranda; Joana Rita Chora; Mafalda Bourbon; Quitéria Rato; Ana Catarina
Gomes; et al. "Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype".
Journal of Lipid Research (2024): https://doi.org/10.1016/j.jlr.2023.100490.
10.1016/j.jlr.2023.100490
- Dharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Brandts, Julia M.; Lyons, Alexander R.M.; Groselj,
Urh; Abifadel, Marianne; et al. "Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional
study". The Lancet 403 10421 (2024): 55-66. https://doi.org/10.1016/s0140-6736(23)01842-1.
10.1016/s0140-6736(23)01842-1
- Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara;
Chora, Joana Rita; et al. "Generation and validation of a classification model to diagnose familial hypercholesterolaemia
in adults". Atherosclerosis 383 (2023): 117314. https://doi.org/10.1016/j.atherosclerosis.2023.117314.
10.1016/j.atherosclerosis.2023.117314
- Medeiros, A.; Alves, A.C.; Chora, J.; Miranda, B.; Bourbon, M.. "Genetic background of individuals with clinical diagnosis
of FH from the Portuguese FH study cohort". Atherosclerosis 379 (2023): S12. https://doi.org/10.1016/j.atherosclerosis.2023.06.715.
10.1016/j.atherosclerosis.2023.06.715
- Medeiros, A. M.; Bourbon, M.. "Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?". Current Atherosclerosis
Reports 25 4 (2023): 127-132. https://doi.org/10.1007/s11883-023-01091-5.
10.1007/s11883-023-01091-5
- Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marília. "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". PLOS ONE 17 6 (2022): e0269713. https://doi.org/10.1371/journal.pone.0269713.
10.1371/journal.pone.0269713
- Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marília. "Performance comparison
of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects".
Scientific Reports 12 1 (2022): http://dx.doi.org/10.1038/s41598-022-05063-8.
10.1038/s41598-022-05063-8
- Medeiros, Ana Margarida; Bourbon, Mafalda. "Polygenic contribution for familial hypercholesterolemia (FH)". Current Opinion
in Lipidology 32 6 (2021): 392-395. http://dx.doi.org/10.1097/mol.0000000000000787.
10.1097/mol.0000000000000787
- Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Lyons, Alexander R.M.; Dharmayat, Kanika I.; Freiberger, Tomas; Hovingh,
G. Kees; Mata, Pedro; et al. "Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial
Hypercholesterolaemia Studies Collaboration (FHSC)". The Lancet 398 10312 (2021): 1713-1725. https://doi.org/10.1016/s0140-6736(21)01122-3.
10.1016/s0140-6736(21)01122-3
- Medeiros, A.M.; Enguita, F.J.; Bourbon, M.. "miRNA target-binding sites as regulators of genes involved in the lipid metabolism
might explain the hypercholesterolaemia in FH patients". Atherosclerosis 331 (2021): e8. https://doi.org/10.1016/j.atherosclerosis.2021.06.027.
10.1016/j.atherosclerosis.2021.06.027
- Futema, Marta; Ramaswami, Uma; Tichy, Lukas; Bogsrud, Martin P.; Holven, Kirsten B.; Roeters van Lennep, Jeanine; Wiegman,
Albert; et al. "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". Atherosclerosis 319 (2021): 108-117.
http://dx.doi.org/10.1016/j.atherosclerosis.2021.01.008.
10.1016/j.atherosclerosis.2021.01.008
- Ferreira, Ana Cristina; Alves, Ana Catarina; Medeiros, A. M.; Padeira, Gonçalo; Bourbon, Mafalda. "Complex Phenotype of Hypercholesterolemia
in a Family with Both ABCG8 and APOB Mutations". Portuguese Journal of Pediatrics 57 4 (2021): 317-322. https://ojs.pjp.spp.pt/article/view/23815.
Published
- Medeiros, A.M.; Bourbon, M.; Alves, A.C.. "Unravelling the genetic background in individuals with familial hypercholesterolemia
phenotype". Atherosclerosis 315 (2020): e97. https://doi.org/10.1016/j.atherosclerosis.2020.10.298.
10.1016/j.atherosclerosis.2020.10.298
- Alves, A.C.; Alonso, R.; Diaz-Diaz, J.L.; Medeiros, A. M.; Jannes, C. E.; Merchan, A.; Vasques-Cardenas, N. A.; et al. "Phenotypical,
Clinical and Molecular Aspects of Adults and Children with Homozygous Familial Hypercholesterolemia in Iberoamerica". Arteriosclerosis,
Thrombosis, and Vascular Biology 40 10 (2020): 2508-2515. doi: 10.1161/ATVBAHA.120.313722.
Published • doi: 10.1161/ATVBAHA.120.313722
- Mariano, Cibelle; Alves, Ana Catarina; Medeiros, Ana Margarida; Chora, Joana Rita; Antunes, Marília; Futema, Marta; Humphries,
Steve E.; Bourbon, Mafalda. "The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic
hypercholesterolaemia and other causes". Clinical Genetics 97 3 (2020): 457-466. http://dx.doi.org/10.1111/cge.13697.
Published • 10.1111/cge.13697
- Medeiros, A.M.; Alves, A.C.; Bourbon, M.. "High Lipoprotein(A) Cholesterol In Patients With Familial Hypercholesterolemia".
Atherosclerosis 287 (2019): e41. https://doi.org/10.1016/j.atherosclerosis.2019.06.117.
10.1016/j.atherosclerosis.2019.06.117
- Alves, Ana Catarina; Benito-Vicente, Asier; Medeiros, Ana Margarida; Reeves, Kaajal; Martin, Cesar; Bourbon, Mafalda. "Further
evidence of novel APOB mutations as a cause of familial hypercholesterolaemia". Atherosclerosis 277 (2018): 448-456.
http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.819.
Published • 10.1016/j.atherosclerosis.2018.06.819
- Chora, Joana Rita; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda. "Analysis of publicly available LDLR, APOB,
and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial
hypercholesterolemia diagnosis". Genetics in Medicine 20 6 (2017): 591-598. http://dx.doi.org/10.1038/gim.2017.151.
Published • 10.1038/gim.2017.151
- Lima-Martínez, Marcos M.; Paoli, Mariela; Vázquez-Cárdenas, Alejandra; Magaña-Torres, María Teresa; Guevara, Ornella; Muñoz,
María Carolina; Parrilla-Alvarez, Alberto; et al. "Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar
en una unidad de endocrinología de Ciudad Bolívar, Venezuela". Endocrinología, Diabetes y Nutrición 64 8 (2017): 432-439.
http://dx.doi.org/10.1016/j.endinu.2017.05.007.
Published • 10.1016/j.endinu.2017.05.007
- Bañares, Virginia G.; Corral, Pablo; Medeiros, Ana Margarida; Araujo, María Beatriz; Lozada, Alfredo; Bustamante, Juan; Cerretini,
Roxana; et al. "Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina". Journal of Clinical
Lipidology 11 2 (2017): 524-531. http://dx.doi.org/10.1016/j.jacl.2017.02.007.
Published • 10.1016/j.jacl.2017.02.007
- Chora, Joana Rita; Alves, Ana Catarina; Medeiros, Ana Margarida; Mariano, Cibelle; Lobarinhas, Goreti; Guerra, António; Mansilha,
Helena; Cortez-Pinto, Helena; Bourbon, Mafalda. "Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial
hypercholesterolemia?". Journal of Clinical Lipidology 11 2 (2017): 477-484.e2. http://dx.doi.org/10.1016/j.jacl.2016.11.002.
Published • 10.1016/j.jacl.2016.11.002
- Santos, Raul D.; Bourbon, Mafalda; Alonso, Rodrigo; Cuevas, Ada; Vasques-Cardenas, Norma Alexandra; Pereira, Alexandre C.;
Merchan, Alonso; et al. "Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries". Journal
of Clinical Lipidology 11 1 (2017): 160-166. http://dx.doi.org/10.1016/j.jacl.2016.11.004.
Published • 10.1016/j.jacl.2016.11.004
- Medeiros, A.M.; Bourbon, M.; Aguiar, P.. "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". Atherosclerosis 252 (2016): e203-e204. https://doi.org/10.1016/j.atherosclerosis.2016.07.128.
10.1016/j.atherosclerosis.2016.07.128
- Alves, Ana Catarina; Etxebarria, Aitor; Medeiros, Ana Margarida; Benito-Vicente, Asier; Thedrez, Aurélie; Passard, Maxime;
Croyal, Mikaël; et al. "Characterization of the First PCSK9 Gain of Function Homozygote". Journal of the American College
of Cardiology 66 19 (2015): 2152-2154. http://dx.doi.org/10.1016/j.jacc.2015.08.871.
Published • 10.1016/j.jacc.2015.08.871
- Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda. "Mutational analysis of a cohort with clinical diagnosis of
familial hypercholesterolemia: considerations for genetic diagnosis improvement". Genetics in Medicine 18 4 (2015):
316-324. http://dx.doi.org/10.1038/gim.2015.71.
Published • 10.1038/gim.2015.71
- Benito-Vicente, Asier; Alves, Ana Catarina; Etxebarria, Aitor; Medeiros, Ana Medeiros; Martin, Cesar; Bourbon, Mafalda. "The
importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia".
Genetics in Medicine 17 12 (2015): 980-988. http://dx.doi.org/10.1038/gim.2015.14.
Published • 10.1038/gim.2015.14
- Cymbron, Teresa; Mendes, Patrícia; Ramos, Amanda; Raposo, Mafalda; Kazachkova, Nadiya; Medeiros, Ana Margarida; Bruges-Armas,
Jácome; Bourbon, Mafalda; Lima, Manuela. "Familial hypercholesterolemia: Molecular characterization of possible cases from
the Azores Islands (Portugal)". Meta Gene 2 (2014): 638-645. http://dx.doi.org/10.1016/j.mgene.2014.08.004.
Published • 10.1016/j.mgene.2014.08.004
- Rocha, Teresa; Rocha, Evangelista; Alves, Ana Catarina; Medeiros, Ana Margarida; Francisco, Vânia; Silva, Sónia; Mendes Gaspar,
Isabel; Rato, Quitéria; Bourbon, Mafalda. "Cardiovascular risk profile of high school students: A cross-sectional study".
Revista Portuguesa de Cardiologia 33 9 (2014): 525-534. http://dx.doi.org/10.1016/j.repc.2014.01.024.
Published • 10.1016/j.repc.2014.01.024
- Medeiros, A.; Alves, A.; Aguiar, P.; Bourbon, M.. "Apob/apoa1 ratio improves clinical criteria sensitivity for the identification
of fh children". Atherosclerosis 235 2 (2014): e64. https://doi.org/10.1016/j.atherosclerosis.2014.05.160.
10.1016/j.atherosclerosis.2014.05.160
- Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda. "Cardiovascular risk assessment of dyslipidemic
children: analysis of biomarkers to identify monogenic dyslipidemia". Journal of Lipid Research 55 5 (2014): 947-955.
http://dx.doi.org/10.1194/jlr.p043182.
Published • 10.1194/jlr.p043182
- Espinheira, Maria Céu; Vasconcelos, Carla; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Guerra, António.
"Hipercolesterolemia – uma patologia com expressão desde a idade pediátrica". Revista Portuguesa de Cardiologia 32
5 (2013): 379-386. http://dx.doi.org/10.1016/j.repc.2012.09.008.
Published • 10.1016/j.repc.2012.09.008
- Medeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.. "Update of the Portuguese Familial Hypercholesterolaemia Study".
Atherosclerosis 212 2 (2010): 553-558. http://dx.doi.org/10.1016/j.atherosclerosis.2010.07.012.
Published • 10.1016/j.atherosclerosis.2010.07.012
- Alves, Ana Catarina; Medeiros, Ana; Francisco, Vânia; Gaspar, Isabel Mendes; Bourbon, Mafalda. "Molecular diagnosis of familial
hypercholesterolemia: an important tool for cardiovascular risk stratification". Revista Portuguesa de Cardiologia (English
Edition) 29 6 (2010): 907-921. https://www.ncbi.nlm.nih.gov/pubmed/20964105.
Published
- Bourbon, M; Duarte, M A; Alves, A C; Medeiros, A M; Marques, L; Soutar, A K. "Genetic diagnosis of familial hypercholesterolaemia:
the importance of functional analysis of potential splice-site mutations". Journal of Medical Genetics 46 5 (2009):
352-357. http://dx.doi.org/10.1136/jmg.2007.057000.
Published • 10.1136/jmg.2007.057000
- Medeiros, A. M.; Alves, A. C.; Francisco, V.; Silva, S.; Bourbon, M.; Portuguese FH Study. "Familial hypercholesterolaemia
- an oportunity for preventive medicine". European Heart Journal 30 (2009): 374-374. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000208702603278&KeyUID=WOS:000208702603278.
- Bourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.. "Familial hypercholesterolaemia in Portugal". Atherosclerosis
196 2 (2008): 633-642. http://dx.doi.org/10.1016/j.atherosclerosis.2007.07.019.
Published • 10.1016/j.atherosclerosis.2007.07.019
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