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Identification

Personal identification

Full name
Ana Margarida Cabeleira Medeiros

Author identifiers

Ciência ID
191C-D374-9E19
ORCID iD
0000-0003-2972-0872
Outputs

Publications

Book chapter
  1. Chora, Joana Rita; Medeiros, A.M.; Alves, Ana Catarina; Bourbon, Mafalda. "Familial hypercholesterolemia". In Clinical DNA Variant Interpretation, edited by Lázaro, Conxi; Lerner-Ellis, Jordan; Spurdle, Amanda, 323-348. 2021.
    Published
Conference poster
  1. Medeiros, AM; Alves, AC; Chora, JR; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar: 1999-2020". Paper presented in XXIX Congresso Português de Aterosclerose, 2021.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. Medeiros, Ana Margarida; Aguiar, P.; Bourbon, M.. "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". Paper presented in 84th Congress of the European Atherosclerosis Society, Innsbruck, Austria, 2016.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. Medeiros, Ana Margarida; Alves, A. C.; Bourbon, M.. "Portugal. Genetic Screening of Familial Hypercholesterolemia in Portugal". Paper presented in EuroPRevent 2015, Lisbon, Portugal, 2015.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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.
  34. 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.
  35. 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.
  36. 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.
  37. 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.
  38. 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.
  39. 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.
  40. 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.
  41. 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.
  42. 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.
  43. 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.
  44. 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.
  45. 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.
  46. 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.
  47. 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.
  48. 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.
  49. 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.
  50. 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.
  51. 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.
  52. 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.
  53. 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.
  54. 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.
  55. 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.
  56. 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.
  57. 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.
  58. 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.
  59. 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.
  60. 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.
  61. 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.
  62. 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.
  63. 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.
  64. 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.
  65. 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.
  66. 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.
  67. 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.
  68. 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.
  69. 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.
  70. 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.
  71. 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.
  72. 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.
  73. 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.
  74. 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.
  75. 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.
  76. 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
  1. 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
  2. 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
  3. 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
  4. Medeiros, A.M.. "Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.". Arteriosclerosis, thrombosis, and vascular biology (2020): https://doi.org/10.1161/ATVBAHA.120.313722.
    10.1161/atvbaha.120.313722
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
Newsletter article
  1. Medeiros, Ana; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar", Boletim Epidemiológico Observações, 2017, http://www.insa.min-saude.pt/category/informacao-e-cultura-cientifica/publicacoes/boletim-epidemiologico-observacoes-suplemento-9/.
  2. Alves, Ana Catarina; Medeiros, Ana; Bourbon, Mafalda. "Estudo português de hipercolesterolemia familiar: 15 anos", Boletim Epidemiológico Observações, 2014, http://repositorio.insa.pt/bitstream/10400.18/1956/1/Boletim_Epidemiologico_Observacoes_7_2014.pdf.
  3. Medeiros, Ana; Aguiar, Pedro; Bourbon, Mafalda. "Dislipidemia e Risco cardiovascular em crianças: identificação de biomarcadores para uma melhor diferenciação entre uma dislipidemia monogénica e uma dislipidemia poligenica/externa", Boletim Epidemiológico Observações,, 2013, http://repositorio.insa.pt/bitstream/10400.18/2110/1/observacoesNEspecia2-2013.pdf.
  4. Rocha, Teresa; Alves, Ana Catarina; Medeiros, Ana; Francisco, Vânia; Silva, Sónia; Guiomar, Sofia; Paixão, Eleanora; et al. "Perfil de risco cardiovascular de estudantes do ensino secundário", Boletim Epidemiológico Observações, 2012, http://repositorio.insa.pt/bitstream/10400.18/878/5/Observa%C3%A7%C3%B5es%20Vol%201%20N%2012012.pdf.
Thesis / Dissertation
  1. Medeiros, Ana. "Caracterização molecular de doentes portugueses com diagnóstico clínico de hipercolesterolemia familiar". Master, Universidade de Lisboa Instituto Superior Técnico, 2007. https://fenix.tecnico.ulisboa.pt/cursos/mq/dissertacao/2353642087214.
  2. Medeiros, Ana. "Diagnóstico Hematológico e Molecular de Hemoglobinopatias: Avaliação das cadeias de globina por RP-HPLC; Alfa-talassémia deleccional, correlação genótipo/fenótipo". Degree, Universidade de Lisboa Instituto Superior Técnico, 2005.