Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


AuthID: R-000-KH5

Publicações a aguardar confirmação

1
TÍTULO: Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
AUTORES: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLICAÇÃO: 2024, FONTE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef: 1
NO MEU: ORCID
2
TÍTULO: Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
AUTORES: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLICAÇÃO: 2024, FONTE: NPJ GENOMIC MEDICINE, VOLUME: 9, NÚMERO: 1
INDEXADO EM: Scopus WOS
3
TÍTULO: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
AUTORES: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; Pablo Corral; Diogo Cruz; Olivier S Descamps; Euridiki Drogari; Ronen Durst; Marat V Ezhov; Jacques Genest; Mariko Harada-Shiba; Kirsten B Holven; Steve E Humphries; Weerapan Khovidhunkit; Katarina Lalic; Ulrich Laufs; Evangelos Liberopoulos; Jeanine Roeters van Lennep; Marcos Miguel Lima-Martinez; Jie Lin; Vincent Maher; Winfried März; André R Miserez; Olena Mitchenko; Hapizah Nawawi; Andrie G Panayiotou; György Paragh; Arman Postadzhiyan; Ashraf Reda; Željko Reiner; Ximena Reyes; Fouzia Sadiq; Amirhossein Sahebkar; Heribert Schunkert; Aleksandr B Shek; Eric Stroes; Ta-Chen Su; Tavintharan Subramaniam; Andrey Susekov; Alejandra Vázquez Cárdenas; Thanh Huong Truong; Alexandros D Tselepis; Branislav Vohnout; Luya Wang; Shizuya Yamashita; Ahmad Al-Sarraf; Nasreen Al-Sayed; Kairat Davletov; Bambang Dwiputra; Dan Gaita; Meral Kayikcioglu; Gustavs Latkovskis; David D Marais; Anne Thushara Matthias; Erkin Mirrakhimov; Børge G Nordestgaard; Zaneta Petrulioniene; Belma Pojskic; Wilson Sadoh; Myra Tilney; Brian Tomlinson; Anne Tybjærg-Hansen; Margus Viigimaa; Alberico L Catapano; Tomas Freiberger; Kees K Hovingh; Pedro Mata; Handrean Soran; Frederick Raal; Gerald F Watts; Laura Schreier; Virginia Bañares; Susanne Greber-Platzer; Margot Baumgartner-Kaut; Charlotte de Gier; Hans Dieplinger; Florian Höllerl; Reinhold Innerhofer; Daniela Karall; Julia Lischka; Bernhard Ludvik; Martin Mäser; Sabine Scholl-Bürgi; Alexandra Thajer; Hermann Toplak; Fabian Demeure; Ann Mertens; Jean-Luc Balligand; Xavier Stephenne; Etienne Sokal; Ivo Petrov; Assen Goudev; Fedya Nikolov; Snejana Tisheva; Yoto Yotov; Ivajlo Tzvetkov; Robert A Hegele; Daniel Gaudet; Liam Brunham; Isabelle Ruel; Brian McCrindle; Ada Cuevas; Dražen Perica; Phivos Symeonides; Efstratios Trogkanis; Andreas Kostis; Andreas Ioannou; Angeliki Mouzarou; Anthoula Georgiou; Andreas Stylianou; George Miltiadous; Paris Iacovides; Constantinos Deltas; Michal Vrablik; Zuzana Urbanova; Pavel Jesina; Lukas Tichy; Josef Hyanek; Jana Dvorakova; Jana Cepova; Josef Sykora; Kristyna Buresova; Michal Pipek; Eva Pistkova; Ivana Bartkova; Astrid S|ulakova; Lenka Toukalkova; Michaela Spenerova; Jan Maly; Marianne Benn; Ahmed Bendary; Atef Elbahry; Jean Ferrières; Dorota Ferrieres; Noel Peretti; Eric Bruckert; Antonio Gallo; René Valero; Florian Mourre; Karine Aouchiche; Rachel Reynaud; Patrick Tounian; Julie Lemale; Franck Boccara; Philippe Moulin; Sybil Charrières; Mathilde Di Filippo; Bertrand Cariou; François Paillard; Caroline Dourmap; Alain Pradignac; Bruno Verges; Isabelle Simoneau; Michel Farnier; Yves Cottin; Cecile Yelnik; Regis Hankard; François Schiele; Vincent Durlach; Ariane Sultan; Alain Carrié; Jean-Pierre Rabès; Veronika Sanin; Raphael S Schmieder; Sara Ates; Christos V Rizos; Ioannis Skoumas; Konstantinos Tziomalos; Loukianos Rallidis; Vasileios Kotsis; Michalis Doumas; Emmanouil Skalidis; Genovefa Kolovou; Vana Kolovou; Anastasia Garoufi; Iosif Koutagiar; Georgios Polychronopoulos; Estela Kiouri; Christina Antza; Evangelos Zacharis; Achilleas Attilakos; George Sfikas; Charalambos Koumaras; Panagiotis Anagnostis; Georgia Anastasiou; George Liamis; Petros-Spyridon Adamidis; Haralambos Milionis; Vaia Lambadiari; Stella Stabouli; Theodosios Filippatos; Vicky Mollaki; Anastasia Tsaroumi; Frida Lamari; Pavlos Proyias; Mariann Harangi; Lakshmi Lavanya Reddy; Swarup A V Shah; Chandrashekhar K Ponde; Jamshed J Dalal; Jitendra P.S Sawhney; Ishwar C Verma; Susan Hosseini; Tannaz Jamialahmadi; Mohammed Alareedh; Foaad Shaghee; Sabah Hasan Rhadi; Maryam Abduljalal; Sarmad Alfil; Huda Kareem; Hofit Cohen; Eran Leitersdorf; Daniel Schurr; Shoshi Shpitzen; Marcello Arca; Maurizio Averna; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi; Manuela Casula; Federica Galimberti; Marta Gazzotti; Elena Olmastroni; Riccardo Sarzani; Claudio Ferri; Elena Repetti; Francesco Giorgino; Patrizia Suppressa; Antonio Carlo Bossi; Claudio Borghi; Sandro Muntoni; Francesco Cipollone; Roberto Scicali; Arturo Pujia; Angelina Passaro; Martina Berteotti; Valerio Pecchioli; Livia Pisciotta; Giuseppe Mandraffino; Fabio Pellegatta; Giuliana Mombelli; Adriana Branchi; Anna Maria Fiorenza; Cristina Pederiva; José Pablo Werba; Gianfranco Parati; Fabio Nascimbeni; Lorenzo Iughetti; Giuliana Fortunato; Raimondo Cavallaro; Gabriella Iannuzzo; Paolo Calabrò; Angelo Baldassare Cefalù; Maria Elena Capra; Alberto Zambon; Matteo Pirro; Francesco Sbrana; Chiara Trenti; Ilenia Minicocci; Massimo Federici; Maria Del Ben; Paola Sabrina Buonuomo; Simona Moffa; Antonio Pipolo; Nadia Citroni; Ornella Guardamagna; Salvatore Lia; Andrea Benso; Gianni Biolo Biolo; Lorenzo Maroni; Alessandro Lupi; Luca Bonanni; Elisabetta Rinaldi; Maria Grazia Zenti; Daisaku Masuda; Linda Mahfouz; Selim Jambart; Carine Ayoub; Youmna Ghaleb; Noor Alicezah Mohd Kasim; Noor Shafina Mohd Nor; Alyaa Al-Khateeb; Siti Hamimah Sheikh Abdul Kadir; Yung-An Chua; Aimi Zafira Razman; Sukma Azureen Nazli; Norashikin Mohd Ranai; Ahmad Zubaidi Abd Latif; María Teresa Magaña Torres; Roopa Mehta; Alexandro J Martagon; Gabriela Galan G Ramirez; Neftali Eduardo Antonio-Villa; Arsenio Vargas-Vazquez; Daniel Elias-Lopez; Gustavo Gonzalez Retana; Bethsabel Rodrıguez Encinas; Jose Ceballos C Macıas; Alejandro Romero Zazueta; Rocio Martinez Alvarado; Julieta Morales M Portano; Humberto Alvares Lopez; Leobardo Sauque-Reyna; Laura G Gomez Herrera; Luis E Simental Mendia; Humberto Garcia Aguilar; Elizabeth Ramirez Cooremans; Berenice Pe~na Aparicio; Victoria Mendoza Zubieta; Perla Carrillo C Gonzalez; Aldo Ferreira-Hermosillo; Nacu Caracas Portilla; Guadalupe Jimenez Dominguez; Alinna Ruiz R Garcia; Hector E Arriaga Cazares; Jesus R Gonzalez Gonzalez; Carla V Mendez Valencia; Francisco G Padilla Padilla; Ramon Madriz Prado; Manuel O De los Rios Ibarra; Ruy D Arjona Villica~na; Karina J Acevedo Rivera; Ricardo Allende Carrera; Jose A Alvarez; Jose C Amezcua Martinez; Manuel de los Reyes Barrera Bustillo; Gonzalo Carazo Vargas; Roberto Contreras Chacon; Mario H Figueroa Andrade; Ashanty Flores Ortega; Hector Garcia Alcala; Laura E Garcia de Leon; Berenice Garcia Guzman; Jose J Gardu~no Garcia; Juan C Garnica Cuellar; Jose R Gomez Cruz; Anell Hernandez Garcia; Jesus R Holguin Almada; Ursulo Juarez Herrera; Fabiola Lugo Sobrevilla; Eduardo Marquez Rodriguez; Cristina Martinez Sibaja; Alma B Medrano Rodriguez; Jose C Morales Oyervides; Daniel I Perez Vazquez; Eduardo A Reyes Rodriguez; Ma Ludivina Robles Osorio; Juan Rosas Saucedo; Margarita Torres Tamayo; Luis A Valdez Talavera; Luis E Vera Arroyo; Eloy A Zepeda Carrillo; Annette Galema-Boers; Albert Weigman; Martin P Bogsrud; Munir Malik; Saeedullah Shah; Sabeen Abid Khan; Muhammad Asim Rana; Hijab Batool; Ewa Starostecka; Agnieszka Konopka; Joanna Lewek; Agata Bielecka-Dąbrowa; Agnieszka Gach; Jacek Jóźwiak; Marcin Pajkowski; Marzena Romanowska-Kocejko; Marta Żarczyńska-Buchowiecka; Marcin Hellmann; Magdalena Chmara; Bartosz Wasąg; Aleksandra Parczewska; Natasza Gilis-Malinowska; Justyna Borowiec-Wolna; Aneta Stróżyk; Aleksandra Michalska-Grzonkowska; Izabela Chlebus; Mariola Kleinschmidt; Agnieszka Wojtecka; Tomasz Zdrojewski; Małgorzata Myśliwiec; Matylda Hennig; Ana Margarida Medeiros; Ana Catarina Alves; Ana Filipa Almeida; Andreia Lopes; António Guerra; Carla Bilhoto; Fernando Simões; Francisco Silva; Goreti Lobarinhas; Guida Gama; Isabel Palma; José Miguel Salgado; Luísa Diogo Matos; Márcio de Moura; Maria João Virtuoso; Mónica Tavares; Patrícia Ferreira; Patrícia Pais; Paula Garcia; Raquel Coelho; Raquel Ribeiro; Susana Correia; Dinara Sadykova; Evgenia Slastnikova; Dalal Alammari; Horia Ahmed Mawlawi; Atif Alsahari; Alia Abdullah Khudary; Nawal Lafi Alrowaily; Natasa Rajkovic; Ljiljana Popovic; Sandra Singh; Iva Rasulic; Ana Petakov; Nebojsa M Lalic; Fabian Kok Peng; Rashida Farhan Vasanwala; Sreedharan Aravind Venkatesh; Katarina Raslova; Lubomira Fabryova; Jan Nociar; Jana Šaligova; Ludmila Potočňáková; Miriam Kozárová; Tibor Varga; Michaela Kadurova; Marianna Debreova; Peter Novodvorsky; Katarina Gonova; Alexander Klabnik; Ingrid Buganova; Tadej Battelino; Barbara Jenko Bizjan; Marusa Debeljak; Jernej Kovac; Matej Mlinaric; Neza Molk; Jaka Sikonja; Ursa Sustar; Katarina Trebusak Podkrajsek; Ovidio Muñiz-Grijalvo; Jose Luis Díaz-Díaz; Raimundo de Andrés; Francisco Fuentes-Jiménez; Dirk Blom; Eleonore B Miserez; Janine L Shipton; Poranee Ganokroj; Marta Futema; Uma Ramaswami; Rano B Alieva; Khurshid G Fozilov; Shavkat U Khoshimov; Ulugbek I Nizamov; Guzal J Abdullaeva; Liliya E Kan; Alisher A Abdullaev; Daria V Zakirova; Doan-Loi Do; Mai-Ngoc-Thi Nguyen; Ngoc-Thanh Kim; Thanh-Tung Le; Hong-An Le; Raul Santos; Kausik K Ray; ...Mais
PUBLICAÇÃO: 2024, FONTE: The Lancet, VOLUME: 403, NÚMERO: 10421
INDEXADO EM: CrossRef: 10
NO MEU: ORCID
4
TÍTULO: Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
AUTORES: Medeiros, A. M.; Bourbon, M.;
PUBLICAÇÃO: 2023, FONTE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef: 7
NO MEU: ORCID
5
TÍTULO: Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef: 12
NO MEU: ORCID
6
TÍTULO: Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
AUTORES: Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espirito; Silva, Raquel Gouveia; Cardoso, Sandra Soares; Diogo, Luisa; Seidi, Monica; Sequeira, Silvia; Bourbon, Mafalda;
PUBLICAÇÃO: 2023, FONTE: FRONTIERS IN GENETICS, VOLUME: 13
INDEXADO EM: Scopus WOS CrossRef
NO MEU: ORCID
7
TÍTULO: MOLECULAR STUDY OF MODY: LATEST RESULTS FROM 2011 TO 2022  Full Text
AUTORES: 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;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
8
TÍTULO: FUNCTIONAL CHARACTERIZATION OF APOB VARIANTS FROM FAMILIAL HYPERCHOLESTEROLEMIA CASES  Full Text
AUTORES: Ferreira, Maria S.; Bourbon, Mafalda; Alves, Ana C.;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
9
TÍTULO: FIRST YEAR OF LDLR VARIANT CLASSIFICATION FROM THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANEL  Full Text
AUTORES: Chora, Joana Rita; Bourbon, Mafalda;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
10
TÍTULO: NEXT GENERATION SEQUENCING - A KEY TOOL FOR DIAGNOSIS AND INVESTIGATION OF FAMILIAL DYSLIPIDEMIAS  Full Text
AUTORES: Miranda, Beatriz R.; Alves, Ana C.; Bourbon, Mafalda;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
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