Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


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Publications Requiring Validation

11
TITLE: Portuguese Lipid Study (e_LIPID)
AUTHORS: Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quiteria; Antunes, Marilia ; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 13, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
12
TITLE: Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease  Full Text
AUTHORS: de 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;
PUBLISHED: 2024, SOURCE: NUTRIENTS, VOLUME: 16, ISSUE: 24
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
13
TITLE: 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
AUTHORS: Elshorbagy, Amany; Lyons, Alexander R. M.; Vallejo Vaz, Antonio J.; Stevens, Christophe A. T.; Dharmayat, Kanika I.; Brandts, Julia; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar Salinas, Carlos A.; Alhabib, Khalid F.; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al Rasadi, Khalid; Al Sarraf, Ahmad; Ashavaid, Tester F.; Banach, Maciej; Binder, Christoph J.; Bourbon, Mafalda; Brunham, Liam R.; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Davletov, Kairat; Descamps, Olivier S.; Ezhov, Marat; Gaita, Dan; Groselj, Urh; Harada Shiba, Mariko; Holven, Kirsten B.; Kayikcioglu, Meral; Khovidhunkit, Weerapan; Lalic, Katarina; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos; Lima Martinez, Marcos M.; Lin, Jie; Maher, Vincent; Marais, A. David; Marz, Winfried; Mirrakhimov, Erkin; Miserez, Andre R.; Mitchenko, Olena; Nawawi, Hapizah; Nordestgaard, Borge G.; Panayiotou, Andrie G.; Paragh, Gyorgy; Petrulioniene, Zaneta; Pojskic, Belma; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Zeljko; Reyes, Ximena; Sadiq, Fouzia; Sadoh, Wilson E.; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Erik; Su, Ta Chen; Subramaniam, Tavintharan; Susekov, Andrey V.; Tilney, Myra; Tomlinson, Brian; Truong, TH; Tselepis, Alexandros D.; Tybjaerg Hansen, Anne; Vazquez, Alejandra C.; Viigimaa, Margus; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Arca, Marcello; Averna, Maurizio; Ray, Kausik K.; ...More
PUBLISHED: 2024, SOURCE: LANCET DIABETES & ENDOCRINOLOGY, VOLUME: 12, ISSUE: 11
INDEXED IN: WOS CrossRef: 5
IN MY: ORCID
14
TITLE: Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
AUTHORS: Medeiros, A. M.; Bourbon, M.;
PUBLISHED: 2023, SOURCE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
15
TITLE: Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
AUTHORS: Cuchel, 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.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID
16
TITLE: Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
AUTHORS: Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espirito; Silva, Raquel Gouveia; Cardoso, Sandra Soares; Diogo, Luisa; Seidi, Monica; Sequeira, Silvia; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: FRONTIERS IN GENETICS, VOLUME: 13
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
17
TITLE: MOLECULAR STUDY OF MODY: LATEST RESULTS FROM 2011 TO 2022  Full Text
AUTHORS: Vaz, Margarida; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, Joao Sequeira; Sampaio, Maria De Lurdes; Dario, Paulo; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
18
TITLE: FUNCTIONAL CHARACTERIZATION OF APOB VARIANTS FROM FAMILIAL HYPERCHOLESTEROLEMIA CASES  Full Text
AUTHORS: Ferreira, Maria S.; Bourbon, Mafalda; Alves, Ana C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
19
TITLE: FIRST YEAR OF LDLR VARIANT CLASSIFICATION FROM THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANEL  Full Text
AUTHORS: Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
20
TITLE: NEXT GENERATION SEQUENCING - A KEY TOOL FOR DIAGNOSIS AND INVESTIGATION OF FAMILIAL DYSLIPIDEMIAS  Full Text
AUTHORS: Miranda, Beatriz R.; Alves, Ana C.; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
Page 2 of 13. Total results: 124.

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