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Mafalda Bourbon

instituto nacional de saúde doutor ricardo jorge

34H指数
406论文数
4.3K被引数
收录论文 100
发表时间
Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement儿童和青少年家族性高胆固醇血症:欧洲动脉粥样硬化学会共识声明
err2026-05-25
err0
errOAAI
errAlbert Wiegman; Mafalda Bourbon; Tomas Freiberger; Samuel S Gidding; Susanne Greber-Platzer; Urh Groselj; Kirsten B Holven; Lisa C Hudgins; Steve E Humphries; Barbara A Hutten; Daiana Ibarretxe; Cristina Pederiva; Noel Peretti; Frederick J Raal; Uma Ramaswami; Veronika Sanin; Raul D Santos; Elisabeth Steinhagen-Thiessen; Gerald F Watts; Rosie Perkins; Marianne Benn; Christoph J Binder; Stefano Romeo; Jeanine E Roeters van Lennep; null
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PO80 Functional Impact of Nonsense APOB Variants on LDLR BindingPO80 无义APOB变异对LDLR结合功能的影响
err2026-03-19
err0
PREAI
errMaria S Ferreira; Asier Larrea-Sebal; César Martin; Maria Apellaniz-Ruiz; Ander Ernaga-Lorea; Mafalda Bourbon; Ana Catarina Alves
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The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR家族性高胆固醇血症基因LDLR编码变异的功能景观
errScience
IF45.8
err2025-10-30
err0
PREAI
errDaniel R. Tabet; Atina G. Coté; Megan C. Lancaster; Jochen Weile; Ashyad Rayhan; Iosifina Fotiadou; Nishka Kishore; Roujia Li; Da Kuang; Jennifer J. Knapp; Carmela S. Carrero; Olivia Taverniti; Anna Axakova; Jack M. P. Castelli; Mohammad M. Islam; Shahin Sowlati-Hashjin; Aanshi Gandhi; Ranim Maaieh; Michael Garton; Kenneth Matreyek; Douglas M. Fowler; Mafalda Bourbon; Simon G. Pfisterer; Andrew M. Glazer; Brett M. Kroncke; Victoria N. Parikh; Euan A. Ashley; Joshua W. Knowles; Melina Claussnitzer; Elizabeth T. Cirulli; Robert A. Hegele; Dan M. Roden; Calum A. MacRae; Frederick P. Roth
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Recent advances in research and care of familial hypercholesterolaemia家族遗传性高胆固醇血症研究及治疗领域的最新进展
err2025-10-22
err0
PREAI
errRaul D Santos; Samuel S Gidding; Mafalda Bourbon; Iulia Iatan; Mariko Harada-Shiba; Frederick J Raal; Antonio J Vallejo-Vaz; Albert Wiegman; Gerald F Watts
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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
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
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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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
err2024-12-13
err0
errOAAI
errde las Heras, Javier; Almohalla, Carolina; Blasco-Alonso, Javier; Bourbon, Mafalda; Couce, Maria-Luz; de Castro Lopez, Maria Jose; Garcia Jimenez, Ma Concepcion; Gil Ortega, David; Gonzalez-Dieguez, Luisa; Meavilla, Silvia; Moreno-alvarez, Ana; Pastor-Rosado, Jose; Sanchez-Pintos, Paula; Serrano-Gonzalo, Irene; Lopez, Eduardo; Valdivielso, Pedro; Yahyaoui, Raquel; Quintero, Jesus
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Portuguese Lipid Study (e_LIPID)
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
err2024-02-01
err9
errOAAI
errMedeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda
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Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study来自48个国家的儿童和青少年的家族性高胆固醇血症: 一项横断面研究
errLANCET
IF88.5
err2024-01-01
err19
errOAAI
errDharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A. T.; Brandts, Julia M.; Lyons, Alexander R. M.; Groselj, Urh; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Ashavaid, Tester F.; Banach, Maciej; Beliard, Sophie; Binder, Christoph; Bourbon, Mafalda; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Descamps, Olivier S.; Drogari, Euridiki; Durst, Ronen; Ezhov, Marat, V; Genest, Jacques; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Khovidhunkit, Weerapan; Lalic, Katarina; Laufs, Ulrich; Liberopoulos, Evangelos; Lennep, Jeanine Roeters van; Lima-Martinez, Marcos Miguel; Lin, Jie; Maher, Vincent; Maerz, Winfried; Miserez, Andre R.; Mitchenko, Olena; Nawawi, Hapizah; Panayiotou, Andrie G.; Paragh, Gyoergy; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Zeljko; Reyes, Ximena; Sadiq, Fouzia; Sahebkar, Amirhossein; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Eric; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey; Cardenas, Alejandra Vazquez; Truong, Thanh Huong; Tselepis, Alexandros; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Al-Sarraf, Ahmad; Al-Sayed, Nasreen; Davletov, Kairat; Dwiputra, Bambang; Gaita, Dan; Kayikcioglu, Meral; Latkovskis, Gustavs; Marais, A. David; Matthias, Anne Thushara; Mirrakhimov, Erkin; Nordestgaard, Borge G.; Petrulioniene, Zaneta; Pojskic, Belma; Sadoh, Wilson; Tilney, Myra; Tomlinson, Brian; Tybjaerg-Hansen, Anne; Viigimaa, Margus; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Soran, Handrean; Raal, Frederick; Watts, Gerald F.; Schreier, Laura; Banares, Virginia; Greber-Platzer, Susanne; Baumgartner-Kaut, Margot; de Gier, Charlotte; Dieplinger, Hans; Hoellerl, Florian; Innerhofer, Reinhold; Karall, Daniela; Lischka, Julia; Ludvik, Bernhard; Maeser, Martin; Scholl-Buergi, Sabine; Thajer, Alexandra; Toplak, Hermann; Demeure, Fabian; Mertens, Ann; Balligand, Jean-Luc; Stephenne, Xavier; Sokal, Etienne; Petrov, Ivo; Goudev, Assen; Nikolov, Fedya; Tisheva, Snejana; Yotov, Yoto; Tzvetkov, Ivajlo; Hegele, Robert A.; Gaudet, Daniel; Brunham, Liam; Ruel, Isabelle; Mccrindle, Brian; Cuevas, Ada; Perica, Drazen; Symeonides, Phivos; Trogkanis, Efstratios; Kostis, Andreas; Ioannou, Andreas; Mouzarou, Angeliki; Georgiou, Anthoula; Stylianou, Andreas; Miltiadous, George; Iacovides, Paris; Deltas, Constantinos; Vrablik, Michal; Urbanova, Zuzana; Jesina, Pavel; Tichy, Lukas; Hyanek, Josef; Dvorakova, Jana; Cepova, Jana; Sykora, Josef; Buresova, Kristyna; Pipek, Michal; Pistkova, Eva; Bartkova, Ivana; Ulakova, Astrid S.; Toukalkova, Lenka; Spenerova, Michaela; Maly, Jan; Benn, Marianne; Bendary, Ahmed; Elbahry, Atef; Ferrieres, Jean; Ferrieres, Dorota; Peretti, Noel; Bruckert, Eric; Gallo, Antonio; Valero, Rene; Mourre, Florian; Aouchiche, Karine; Reynaud, Rachel; Tounian, Patrick; Lemale, Julie; Boccara, Franck; Moulin, Philippe; Charrieres, Sybil; Di Filippo, Mathilde; Cariou, Bertrand; Paillard, Francois; Dourmap, Caroline; Pradignac, Alain; Verges, Bruno; Simoneau, Isabelle; Farnier, Michel; Cottin, Yves; Yelnik, Cecile; Hankard, Regis; Schiele, Francois; Durlach, Vincent; Sultan, Ariane; Carrie, Alain; Rabes, Jean-Pierre; Sanin, Veronika; Schmieder, Roland; Ates, Sara; Rizos, Christos, V; Skoumas, Ioannis; Tziomalos, Konstantinos; Rallidis, Loukianos; Kotsis, Vasileios; Doumas, Michalis; Skalidis, Emmanouil; Kolovou, Genovefa; Kolovou, Vana; Garoufi, Anastasia; Koutagiar, Iosif; Polychronopoulos, Georgios; Kiouri, Estela; Antza, Christina; Zacharis, Evangelos; Attilakos, Achilleas; Sfikas, George; Koumaras, Charalambos; Anagnostis, Panagiotis; Anastasiou, Georgia; Liamis, George
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Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults
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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Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
err2023-08-07
err1
errOAAI
errLatkovskis, Gustavs; Rescenko-Krums, Raimonds; Nesterovics, Georgijs; Briviba, Monta; Saripo, Vita; Gilis, Dainus; Terauda, Elizabete; Meiere, Ruta; Skudrina, Gunda; Erglis, Andrejs; Chora, Joana Rita; Bourbon, Mafalda; Klovins, Janis
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High-Throughput Microscopy Characterization of Rare LDLR Variants
err2023-08-01
err5
errOAAI
errGraca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda
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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
err2023-05-02
err21
errOAAI
errCuchel, Marina; Lee, Paul C.; Hudgins, Lisa C.; Duell, P. Barton; Ahmad, Zahid; Baum, Seth J.; Linton, MacRae F.; de Ferranti, Sarah D.; Ballantyne, Christie M.; Larry, John A.; Hemphill, Linda C.; Kindt, Iris; Gidding, Samuel S.; Martin, Seth S.; Moriarty, Patrick M.; Thompson, Paul P.; Underberg, James A.; Guyton, John R.; Andersen, Rolf L.; Whellan, David J.; Benuck, Irwin; Kane, John P.; Myers, Kelly; Howard, William; Staszak, David; Jamison, Allison; Card, Mary C.; Bourbon, Mafalda; Chora, Joana R.; Rader, Daniel J.; Knowles, Joshua W.; Wilemon, Katherine; McGowan, Mary P.
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Functional profiling of LDLR variants: Important evidence for variant classification
err2022-07-01
err11
PREAI
errGraca, Rafael; Alves, Ana Catarina; Zimon, Magdalena; Pepperkok, Rainer; Bourbon, Mafalda
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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification临床基因组资源 (ClinGen) 家族性高胆固醇血症变异治疗LDLR变异分类专家小组共识指南
err2022-02-01
err73
errOAAI
errChora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; Kramarek, Michal; Leigh, Sarah E.; Carrie, Alain; Sijbrands, Eric J.; Hegele, Robert A.; Freiberger, Tomas; Knowles, Joshua W.; Bourbon, Mafalda
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Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
err2022-01-21
err5
errOAAI
errAlbuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia
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