Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects

Autor: Cefalù, Angelo B., Spina, Rossella, Noto, Davide, Rabacchi, Claudio, Giammanco, Antonina, Simone, Maria Luisa, Brucato, Federica, Scrimali, Chiara, Gueli-Alletti, Maria Grazia, Barbagallo, Carlo M., Tarugi, Patrizia, Averna, Maurizio R.

Publikováno v: In Journal of Clinical Lipidology July-August 2022 16(4):530-537

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Autor: Tromp, Tycho R., Hartgers, Merel L., Hovingh, G. Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano A., Harada-Shiba, Mariko, Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina, Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Vallejo-Vaz, Antonio J, Ray, Kausik K, Bertolini, Stefano, Blom, Dirk J, Raal, Frederick J

Publikováno v: In The Lancet 19-25 February 2022 399(10326):719-728

rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography

Autor: Noto, Davide, Cefalù, Angelo B., Martinelli, Nicola, Giammanco, Antonina, Spina, Rossella, Barbagallo, Carlo M., Caruso, Marco, Novo, Salvatore, Sarullo, Filippo, Pernice, Vincenzo, Brucato, Federica, Ingrassia, Valeria, Fayer, Francesca, Altieri, Grazia I., Scrimali, Chiara, Misiano, Gabriella, Olivieri, Oliviero, Girelli, Domenico, Averna, Maurizio R.

Publikováno v: In Nutrition, Metabolism and Cardiovascular Diseases 6 May 2021 31(5):1542-1547

Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”

Autor: Moulin, Philippe, Dufour, Robert, Averna, Maurizio, Arca, Marcello, Cefalù, Angelo B., Noto, Davide, D'Erasmo, Laura, Di Costanzo, Alessia, Marçais, Christophe, Alvarez-Sala Walther, Luis Antonio, Banach, Maciej, Borén, Jan, Cramb, Robert, Gouni-Berthold, Ioanna, Hughes, Elizabeth, Johnson, Colin, Pintó, Xavier, Reiner, Željko, van Lennep, Jeanine Roeters, Soran, Handrean, Stefanutti, Claudia, Stroes, Erik, Bruckert, Eric

Publikováno v: In Atherosclerosis August 2018 275:265-272

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

Autor: Cefalù, Angelo B., Spina, Rossella, Noto, Davide, Ingrassia, Valeria, Valenti, Vincenza, Giammanco, Antonina, Fayer, Francesca, Misiano, Gabriella, Cocorullo, Gianfranco, Scrimali, Chiara, Palesano, Ornella, Altieri, Grazia I., Ganci, Antonina, Barbagallo, Carlo M., Averna, Maurizio R.

Publikováno v: In Journal of Clinical Lipidology January-February 2017 11(1):272-281