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A

Ana Catarina Alves

instituto nacional de saúde dr

24H指数
178论文数
1.9K被引数
收录论文 61
发表时间
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Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis伊比利亚美洲国家的植物甾醇血症：16例新病例及表型-基因型分析
errJournal of Clinical Lipidology
IF4.6
err2025-09-01
err0
PREAI
errA.C. Alves; J.R. Chora; B. Miranda; A.M. Medeiros; R. Graça; V.G. Bañares; M. Araujo; F. Trias Vilagut; C. Soler; S. Meavilla; M. J. Benitez Toledo; C.G. Volpe; X. Reyes; N. Dell'Oca; P. Martins; D. Marado; L. Vilarinho; A. Dias; A.C. Ferreira; G. Padeira; M. Casañas; D.A. González; J.M. Lozano; P. Aguiar; F.S. Gonçalves; A. Ernaga; M. Apellaniz-Ruiz; R. Rubi; N. Figueroa; N.A. Vasquez; P. Valdivielso; M. Bourbon
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Functional characterization of 16 variants found in the low-density lipoprotein receptor (LDLR) gene16个在低密度脂蛋白受体（LDLR）基因中发现的变异体的功能表征
errJournal of Lipid Research
IF4.1
err2025-08-05
err0
errOAAI
errKateřina Konečná; Tereza Přerovská; Tomáš Loja; Lenka Fajkusová; Jana Koutná; Michal Kramárek; Ana Catarina Alves; Mafalda Bourbon; Tomáš Freiberger; Lukáš Tichý
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Portuguese Lipid Study (e_LIPID)
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-11-19
err1
errOAAI
errChora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quiteria; Antunes, Marilia; Bourbon, Mafalda
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Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
errJOURNAL OF LIPID RESEARCH
IF4.1
err2024-02-01
err9
errOAAI
errMedeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda
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Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults
errATHEROSCLEROSIS
IF5.7
err2023-10-01
err1
errOAAI
errAlbuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia
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High-Throughput Microscopy Characterization of Rare LDLR Variants
errJACC-BASIC TO TRANSLATIONAL SCIENCE
IF7.2
err2023-08-01
err5
errOAAI
errGraca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda
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Functional profiling of LDLR variants: Important evidence for variant classification
errJOURNAL OF CLINICAL LIPIDOLOGY
IF4.6
err2022-07-01
err11
PREAI
errGraca, Rafael; Alves, Ana Catarina; Zimon, Magdalena; Pepperkok, Rainer; Bourbon, Mafalda
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Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
errSCIENTIFIC REPORTS
IF3.9
err2022-01-21
err5
errOAAI
errAlbuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia
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Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes
errBIOMEDICINES
IF3.9
err2021-09-14
err6
errOAAI
errGraca, Rafael; Fernandes, Rafael; Alves, Ana Catarina; Menezes, Juliane; Romao, Luisa; Bourbon, Mafalda
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LDLR variants functional characterization: Contribution to variant classification
errATHEROSCLEROSIS
IF5.7
err2021-07-01
err13
errOAAI
errAlves, Ana Catarina; Azevedo, Silvia; Benito-Vicente, Asier; Graca, Rafael; Galicia-Garcia, Unai; Barros, Patricia; Jordan, Peter; Martin, Cesar; Bourbon, Mafalda
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Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
errARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
IF7.4
err2020-10-01
err24
PREAI
errAlves, Ana Catarina; Alonso, Rodrigo; Diaz-Diaz, Jose Luis; Medeiros, Ana Margarida; Jannes, Cinthia E.; Merchan, Alonso; Vasques-Cardenas, Norma A.; Cuevas, Ada; Chacra, Ana Paula; Krieger, Jose E.; Arroyo, Raquel; Arrieta, Francisco; Schreier, Laura; Corral, Pablo; Banares, Virginia G.; Araujo, Maria B.; Bustos, Paula; Asenjo, Sylvia; Stoll, Mario; Dell'Oca, Nicolas; Reyes, Maria; Ressia, Andres; Campo, Rafael; Magana-Torres, Maria T.; Metha, Roopa; Aguilar-Salinas, Carlos A.; Ceballos-Macias, Jose J.; Ruiz Morales, Alvaro J.; Mata, Pedro; Bourbon, Mafalda; Santos, Raul D.
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Metabolic Dysfunction and Asthma: Current Perspectives
errJOURNAL OF ASTHMA AND ALLERGY
IF3
err2020-07-01
err35
errOAAI
errPite, Helena; Aguiar, Laura; Morello, Judit; Monteiro, Emilia C.; Alves, Ana Catarina; Bourbon, Mafalda; Morais-Almeida, Mario
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Prevalence and risk factors of fatty liver in Portuguese adults
errEUROPEAN JOURNAL OF CLINICAL INVESTIGATION
IF3.6
err2020-05-19
err7
PREAI
errLeitao, Jorge; Carvalhana, Sofia; Cochicho, Joana; Silva, Ana Paula; Velasco, Francisco; Medeiros, Isabel; Alves, Ana Catarina; Bourbon, Mafalda; Oliveiros, Barbara; Rodrigues, Vitor; Sousa, Rita; Sampaio, Filipa; Carvalho, Armando; Cortez-Pinto, Helena
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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
errARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
IF7.4
err2019-11-01
err58
errOAAI
errBanerjee, Poulabi; Chan, Kuo-Chen; Tarabocchia, Michel; Benito-Vicente, Asier; Alves, Ana C.; Uribe, Kepa B.; Bourbon, Mafalda; Skiba, Paul J.; Pordy, Robert; Gipe, Daniel A.; Gaudet, Daniel; Martin, Cesar
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FUNCTIONAL GENOMICS IN A COHORT OF FH MUTATION NEGATIVE PATIENTS
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errRossi, N.; Graca, R.; Medeiros, A. M.; Abrantes, L.; Alves, A. C.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.
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FUNCTIONAL CHARACTERIZATION OF LDL RECEPTOR GENE VARIANTS FOUND IN PATIENTS WITH CLINICAL DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errAlves, A. C.; Graca, R.; Abrantes, L.; Medeiros, A. M.; Fernandes, R.; Menezes, J.; Romao, L.; Bourbon, M.
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FH PHENOTYPE: MONOGENIC, POLYGENIC OR OTHER CAUSES?
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errMariano, C.; Alves, A. C.; Medeiros, A. M.; Chora, J. R.; Futema, M.; Humphries, S. E.; Bourbon, M.
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HIGH LIPOPROTEIN(A) CHOLESTEROL IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errMedeiros, A. M.; Alves, A. C.; Bourbon, M.
err分享
err收藏
MOLECULAR ASPECTS OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN IBERO-AMERICAN COUNTRIES
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errAlves, A. C.; Alonso, R.; Cuevas, A.; Medeiros Margarida, A.; Pereira, A. C.; Jannes, C. E.; Krieger, E. J.; Arroyo, R.; Schreier, L.; Corral, P.; Banares, V. G.; Araujo, M.; Asenjo, S.; Stoll, M.; Dell'Oca, N.; Reyes, X.; Ressia, A.; Campo, R.; Merchan, A.; Teresa, M. Magana-Torres; Vasques-Cardenas, A. N.; Mata, P.; Santos, R.; Bourbon, M.
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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
errATHEROSCLEROSIS
IF5.7
err2019-08-01
err0
PREAI
errAlbuquerque, J.; Alves, A. C.; Bourbon, M.; Antunes, M.
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研究方向

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