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1. Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

Author

Redaelli, Serena, Grati, Francesca Romana, Tritto, Viviana, Giannuzzi, Giuliana, Recalcati, Maria Paola, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Malvestiti, Francesca, Zanatta, Valentina, Repetti, Elena, Rodeschini, Ornella, Valtorta, Chiara, Catusi, Ilaria, Romitti, Lorenza, Martinoli, Emanuela, Conconi, Donatella, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, and Bentivegna, Angela

Published
2024
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2. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

Dharmayat, 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, Béliard, 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, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., 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, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, 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, Dražen, 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, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., 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, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.

Published
2024
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3. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Anesi, Adriano, Arca, Marcello, Auricchio, Renata, Averna, Maurizio, Baldera, Davide, Banderali, Giuseppe, Beccuti, Guglielmo, Benso, Andrea, Berteotti, Martina, Bertolini, Stefano, Bianconi, Vanessa, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Calabrò, Paolo, Calandra, Sebastiano, Carubbi, Francesca, Cavallaro, Raimondo, Cefalù, Angelo Baldassarre, Cesaro, Arturo, Cipollone, Francesco, Citroni, Nadia, Colombo, Emanuela, Coppola, Chiara, D'Addato, Sergio, Dal Pino, Beatrice, Dalla Nora, Edoardo, De Corrado, Giuseppe, Del Ben, Maria, Di Molfetta, Sergio, Di Taranto, Maria Donata, Fainelli, Giulia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Formisano, Elena, Fortunato, Giuliana, Giaccari, Andrea, Giorgino, Francesco, Grigore, Liliana, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Iughetti, Lorenzo, Lia, Salvatore, Longo, Susanna, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Massini, Giulia, Mazza, Elisa, Melchioda, Elena, Meregalli, Giancarla, Minicocci, Ilenia, Moffa, Simona, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Negri, Emanuele Alberto, Notargiacomo, Serena, Panfili, Filippo Maria, Parati, Gianfranco, Passaro, Angelina, Pavanello, Chiara, Pecchioli, Valerio, Pecchioli, Lorenzo, Pellegatta, Fabio, Perla, Francesco Massimo, Pipolo, Antonio, Piro, Salvatore, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Putotto, Carolina, Repetti, Elena, Rinaldi, Elisabetta, Romandini, Alessandra, Sani, Elena, Sarnari, Silvia, Sarzani, Riccardo, Sbrana, Francesco, Scicali, Roberto, Scuruchi, Michele, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Vinci, Pierandrea, Werba, José Pablo, Zambon, Sabina, Zambon, Alberto, Zenti, Maria Grazia, Casula, Manuela, Gazzotti, Marta, Capra, Maria Elena, Olmastroni, Elena, Galimberti, Federica, Catapano, Alberico L., and Pederiva, Cristina

Published
2023
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4. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Author

Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Lyons, Alexander R.M., Dharmayat, Kanika I., 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, Al-Sayed, Nasreen, Araujo, Francisco, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Benn, Marianne, Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Davletov, Kairat, Descamps, Olivier S., Durst, Ronen, Ezhov, Marat, Gaita, Dan, Genest, Jacques, 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, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nordestgaard, Børge G., Panayiotou, Andrie G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Raslova, Katarina, Reda, Ashraf, Reiner, Željko, Sadiq, Fouzia, Sadoh, Wilson Ehidiamen, Schunkert, Heribert, Shek, Aleksandr B., Stoll, Mario, Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez Cárdenas, Alejandra, Viigimaa, Margus, Wang, Luya, Yamashita, Shizuya, Kastelein, John J.P., Bruckert, Eric, Vohnout, Branislav, Schreier, Laura, Pang, Jing, Ebenbichler, Christoph, Dieplinger, Hans, Innerhofer, Reinhold, Winhofer-Stöckl, Yvonne, Greber-Platzer, Susanne, Krychtiuk, Konstantin, Speidl, Walter, Toplak, Hermann, Widhalm, Kurt, Stulnig, Thomas, Huber, Kurt, Höllerl, Florian, Rega-Kaun, Gersina, Kleemann, Lucas, Mäser, Martin, Scholl-Bürgi, Sabine, Säly, Christoph, Mayer, Florian J., Sablon, Gaelle, Tarantino, Eric, Nzeyimana, Charlotte, Pojskic, Lamija, Sisic, Ibrahim, Nalbantic, Azra D., Jannes, Cinthia E., Pereira, Alexandre C., Krieger, Jose E., Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Baass, Alexis, Bergeron, Jean, Bernard, Sophie, Brisson, Diane, Brunham, Liam R., Cermakova, Lubomira, Couture, Patrick, Francis, Gordon A., Gaudet, Daniel, Hegele, Robert A., Khoury, Etienne, Mancini, G.B. John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Cuevas, Ada, Asenjo, Sylvia, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed A., Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Angoulvant, Denis, Boccara, Franck, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di-Fillipo, Mathilde, Ducluzeau, Pierre H., Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, hankard, Regis, Inamo, Jocelyne, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnès, Pradignac, Alain, Rabes, Jean P., Rigalleau, Vincent, Sultan, Ariane, Schiele, François, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cécile, Ziegler, Olivier, Haack, Ira A., Schmidt, Nina, Dressel, Alexander, Klein, Isabel, Christmann, Jutta, Sonntag, Antonia, Stumpp, Christine, Boger, Diana, Biedermann, Dana, Usme, Monica M.N., Beil, F. 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2021
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5. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

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

Published
2023
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6. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Casula, Manuela, primary, Gazzotti, Marta, additional, Capra, Maria Elena, additional, Olmastroni, Elena, additional, Galimberti, Federica, additional, Catapano, Alberico L., additional, Pederiva, Cristina, additional, Anesi, Adriano, additional, Arca, Marcello, additional, Auricchio, Renata, additional, Averna, Maurizio, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Beccuti, Guglielmo, additional, Benso, Andrea, additional, Berteotti, Martina, additional, Bertolini, Stefano, additional, Bianconi, Vanessa, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Calabrò, Paolo, additional, Calandra, Sebastiano, additional, Carubbi, Francesca, additional, Cavallaro, Raimondo, additional, Cefalù, Angelo Baldassarre, additional, Cesaro, Arturo, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Colombo, Emanuela, additional, Coppola, Chiara, additional, D'Addato, Sergio, additional, Dal Pino, Beatrice, additional, Dalla Nora, Edoardo, additional, De Corrado, Giuseppe, additional, Del Ben, Maria, additional, Di Molfetta, Sergio, additional, Di Taranto, Maria Donata, additional, Fainelli, Giulia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Formisano, Elena, additional, Fortunato, Giuliana, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Grigore, Liliana, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lia, Salvatore, additional, Longo, Susanna, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Massini, Giulia, additional, Mazza, Elisa, additional, Melchioda, Elena, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Notargiacomo, Serena, additional, Panfili, Filippo Maria, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pavanello, Chiara, additional, Pecchioli, Valerio, additional, Pecchioli, Lorenzo, additional, Pellegatta, Fabio, additional, Perla, Francesco Massimo, additional, Pipolo, Antonio, additional, Piro, Salvatore, additional, Pirro, Matteo, additional, Pisciotta, Livia, additional, Pujia, Roberta, additional, Putotto, Carolina, additional, Repetti, Elena, additional, Rinaldi, Elisabetta, additional, Romandini, Alessandra, additional, Sani, Elena, additional, Sarnari, Silvia, additional, Sarzani, Riccardo, additional, Sbrana, Francesco, additional, Scicali, Roberto, additional, Scuruchi, Michele, additional, Suppressa, Patrizia, additional, Tarugi, Patrizia, additional, Trenti, Chiara, additional, Vinci, Pierandrea, additional, Werba, José Pablo, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, and Zenti, Maria Grazia, additional

Published
2023
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7. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Miccoli, Roberto, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Minicocci, Ilenia, Noto, Davide, Fortunato, Giuliana, Banderali, Giuseppe, Benso, Andrea, Bigolin, Paola, Bonora, Enzo, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Capra, Maria Elena, Cardolini, Iris, Cefalù, Baldassarre, Cervelli, Nazzareno, Chiariello, Giuseppe, Cocci, Guido, Colombo, Emanuela, Cremonini, Anna Laura, D'Addato, Sergio, D'Erasmo, Laura, Dal Pino, Beatrice, De Sanctis, Luisa, De Vita, Emanuele, Del Ben, Maria, Di Costanzo, Alessia, Di Taranto, Maria Donata, Fasano, Tommaso, Gentile, Luigi, Gentile, Marco, Ghirardello, Omar, Grigore, Liliana, Lussu, Milena, Meregalli, Giancarla, Moffa, Simona, Montalcini, Tiziana, Morgia, Valeria, Nascimbeni, Fabio, Pasta, Andrea, Pavanello, Chiara, Saitta, Antonino, Scicali, Roberto, Siepi, Donatella, Spagnolli, Walter, Spina, Rossella, Sticchi, Elena, Suppressa, Patrizia, Vigo, Lorenzo, Vinci, Pierandrea, Casula, Manuela, Manzato, Enzo, Olmastroni, Elena, Tragni, Elena, Zampoleri, Veronica, and Pirillo, Angela

Published
2018
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8. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Averna, Maurizio, additional, Arca, Marcello, additional, Tarugi, Patrizia, additional, Calandra, Sebastiano, additional, Bertolini, Stefano, additional, Catapano, Alberico L., additional, Casula, Manuela, additional, D’Erasmo, Laura, additional, Cefalù, Angelo Baldassare, additional, Bartuli, Andrea, additional, Buonuomo, Paola Sabrina, additional, Benso, Andrea, additional, Beccuti, Guglielmo, additional, Biasucci, Giacomo, additional, Capra, Maria Elena, additional, Biolo, Gianni, additional, Vinci, Pierandrea, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, D’Addato, Sergio, additional, Bossi, Antonio Carlo, additional, Meregalli, Giancarla, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Nascimbeni, Fabio, additional, Cipollone, Francesco, additional, Bucci, Marco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Baratta, Francesco, additional, Federici, Massimo, additional, Montagna, Martina, additional, Ferri, Claudio, additional, Notargiacomo, Serena, additional, Fiorenza, Anna Maria, additional, Colombo, Emanuela, additional, Fortunato, Giuliana, additional, Di Taranto, Maria Donata, additional, Giaccari, Andrea, additional, Moffa, Simona, additional, Giorgino, Francesco, additional, Di Molfetta, Sergio, additional, Guardamagna, Ornella, additional, De Sanctis, Luisa, additional, Iannuzzi, Arcangelo, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Gentile, Marco, additional, Iughetti, Lorenzo, additional, Bruzzi, Patrizia, additional, Lia, Salvatore, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Toscano, Arianna, additional, Marcucci, Rossella, additional, Berteotti, Martina, additional, Maroni, Lorenzo, additional, Locatelli, Fabiana, additional, Montalcini, Tiziana, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Baldera, Davide, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Banderali, Giuseppe, additional, Pipolo, Antonio, additional, D’Elia, Debora, additional, Pirro, Matteo, additional, Bianconi, Vanessa, additional, Pisciotta, Livia, additional, Formisano, Elena, additional, Purrello, Francesco, additional, Scicali, Roberto, additional, Repetti, Elena, additional, Cantino, Elena, additional, Rinaldi, Elisabetta, additional, Sani, Elena, additional, Sarzani, Riccardo, additional, Spannella, Francesco, additional, Sbrana, Francesco, additional, Dal Pino, Beatrice, additional, Suppressa, Patrizia, additional, Cocco, Veronica, additional, Trenti, Chiara, additional, Negri, Emanuele Alberto, additional, Werba, Josè Pablo, additional, Romandini, Alessandra, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, Zenti, Maria Grazia, additional, Fainelli, Giulia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Bonomo, Katia, additional, Capatti, Eleonora, additional, Cutolo, Ada, additional, Fimiani, Fabio, additional, Genovesi, Simonetta, additional, Inchiostro, Sandro, additional, Pavanello, Chiara, additional, Pujia, Roberta, additional, Schaffer, Alon, additional, Catapano, Alberico Luigi, additional, Olmastroni, Elena, additional, and Galimberti, Federica, additional

Published
2023
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12. Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Casula, Manuela, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Bartuli, Andrea, additional, Benso, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Antonio, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Sabbà, Carlo, additional, Sarzani, Riccardo, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Di Costanzo, Alessia, additional, Fortunato, Giuliana, additional, Spina, Rossella, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Baratta, Francesco, additional, Beccuti, Guglielmo, additional, Bertocco, Sandra, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Angelo Baldassarre, additional, Cinquegrani, Maria, additional, Colombo, Emanuela, additional, Covetti, Giuseppe, additional, Cremonini, Anna Laura, additional, Cutolo, Ada, additional, D’Addato, Sergio, additional, D’Ambrosio, Vincenzo, additional, De Corrado, Giuseppe, additional, Di Pentima, Chiara, additional, Fimiani, Fabio, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Giusti, Betti, additional, Grassi, Davide, additional, Grigore, Liliana, additional, Massini, Giulia, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Pavanello, Chiara, additional, Prati, Lucia, additional, Roscini, Anna Rita, additional, Sani, Elena, additional, Schaffer, Alon, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Tedeschi, Michele, additional, Vinci, Pierandrea, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2022
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15. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela

Subjects
0301 basic medicine, Candidate gene, Genetic testing, Settore MED/09 - Medicina Interna, Databases, Factual, DNA Mutational Analysis, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, 0302 clinical medicine, Dyslipidemias, National network, Internal Medicine, Cardiology and Cardiovascular Medicine, Risk Factors, Prospective Studies, Program Development, Prospective cohort study, medicine.diagnostic_test, General Medicine, Prognosis, Cholesterol, Phenotype, Italy, Genetic Markers, medicine.medical_specialty, MEDLINE, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Factual, Retrospective Studies, business.industry, Settore MED/13 - ENDOCRINOLOGIA, Retrospective cohort study, medicine.disease, Atherosclerosis, Mutation, 030104 developmental biology, Endocrinology, Dyslipidemia, Genetic marker, business
Abstract

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

Published
2017

16. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, Cefalù, A. Baldassarre, DI BELLO, Francesca, Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Noto, D., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalu', A., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Sun, V., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Casula, M., Chiodo, L., Manzato, E., Tragni, E., and Colombo, Emanuela

Subjects
0301 basic medicine, Apolipoprotein E, Candidate gene, Settore MED/09 - Medicina Interna, Databases, Factual, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, PCSK9, 0302 clinical medicine, Risk Factors, Receptors, Genetics, Homozygote, Autosomal dominant trait, Pathogenic variants, General Medicine, Prognosis, APOB, LDLR, Cholesterol, Phenotype, Italy, Autosomal Recessive Hypercholesterolemia, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Preliminary Data, Genetic Markers, Familial hypercholesterolemiaLDLRPCSK9APOBPathogenic variants, Heterozygote, Biology, Pathogenic variant, LDL, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, medicine, Internal Medicine, Humans, Genetic Predisposition to Disease, Factual, Settore MED/13 - ENDOCRINOLOGIA, medicine.disease, Atherosclerosis, 030104 developmental biology, Receptors, LDL, Mutation, biology.protein
Abstract

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress.

Published
2017

17. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Casula, Manuela, primary, Olmastroni, Elena, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Miccoli, Roberto, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Minicocci, Ilenia, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Banderali, Giuseppe, additional, Benso, Andrea, additional, Bigolin, Paola, additional, Bonora, Enzo, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Baldassarre, additional, Cervelli, Nazzareno, additional, Chiariello, Giuseppe, additional, Cocci, Guido, additional, Colombo, Emanuela, additional, Cremonini, Anna Laura, additional, D'Addato, Sergio, additional, D'Erasmo, Laura, additional, Dal Pino, Beatrice, additional, De Sanctis, Luisa, additional, De Vita, Emanuele, additional, Del Ben, Maria, additional, Di Costanzo, Alessia, additional, Di Taranto, Maria Donata, additional, Fasano, Tommaso, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Grigore, Liliana, additional, Lussu, Milena, additional, Meregalli, Giancarla, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Morgia, Valeria, additional, Nascimbeni, Fabio, additional, Pasta, Andrea, additional, Pavanello, Chiara, additional, Saitta, Antonino, additional, Scicali, Roberto, additional, Siepi, Donatella, additional, Spagnolli, Walter, additional, Spina, Rossella, additional, Sticchi, Elena, additional, Suppressa, Patrizia, additional, Vigo, Lorenzo, additional, Vinci, Pierandrea, additional, Casula, Manuela, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2018
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18. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, primary, Cefalù, Angelo B., additional, Casula, Manuela, additional, Noto, Davide, additional, Arca, Marcello, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Catapano, Alberico L., additional, Tarugi, Patrizia, additional, Averna, Maurizio, additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Barbagallo, Carlo M., additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Vinsin, A. Sun, additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Chiodo, Lorenzo, additional, Garlaschelli, Katia, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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19. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, primary, Garlaschelli, Katia, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Catapano, Alberico L., additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Cefalù, A. Baldassarre, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Sun, Vinsin A., additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Casula, Manuela, additional, Chiodo, Lorenzo, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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21. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Author

Olmastroni, Elena, Gazzotti, Marta, Averna, Maurizio, Arca, Marcello, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano, Catapano, Alberico L, Casula, Manuela, Laura D'Erasmo, Angelo Baldassare Cefalu, Andrea Bartuli, Paola Sabrina Buonuomo, Andrea Benso, Guglielmo Beccuti, Giacomo Biasucci, Maria Elena Capra, Gianni Biolo, Pierandrea Vinci, Luca Bonanni, Claudio Borghi, Sergio D'Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Paolo Calabrò, Francesca Carubbi, Fabio Nascimbeni, Francesco Cipollone, Marco Bucci, Nadia Citroni, Maria Del Ben, Francesco Baratta, Massimo Federici, Martina Montagna, Claudio Ferri, Serena Notargiacomo, Anna Maria Fiorenza, Emanuela Colombo, Giuliana Fortunato, Maria Donata Di Taranto, Andrea Giaccari, Simona Moffa, Francesco Giorgino, Sergio Di Molfetta, Ornella Guardamagna, Luisa De Sanctis, Arcangelo Iannuzzi, Raimondo Cavallaro, Gabriella Iannuzzo, Marco Gentile, Lorenzo Iughetti, Patrizia Bruzzi, Salvatore Lia, Alessandro Lupi, Giuseppe Mandraffino, Arianna Toscano, Rossella Marcucci, Martina Berteotti, Lorenzo Maroni, Fabiana Locatelli, Tiziana Montalcini, Giuliana Mombelli, Sandro Muntoni, Davide Baldera, Gianfranco Parati, Angelina Passaro, Valerio Pecchioli, Cristina Pederiva, Giuseppe Banderali, Antonio Pipolo, Debora D'Elia, Matteo Pirro, Vanessa Bianconi, Livia Pisciotta, Elena Formisano, Francesco Purrello, Roberto Scicali, Elena Repetti, Elena Cantino, Elisabetta Rinaldi, Elena Sani, Riccardo Sarzani, Francesco Spannella, Francesco Sbrana, Beatrice Dal Pino, Patrizia Suppressa, Veronica Cocco, Chiara Trenti, Emanuele Alberto Negri, Josè Pablo Werba, Alessandra Romandini, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti, Giulia Fainelli, Fabio Pellegatta, Liliana Grigore, Katia Bonomo, Eleonora Capatti, Ada Cutolo, Fabio Fimiani, Simonetta Genovesi, Sandro Inchiostro, Chiara Pavanello, Roberta Pujia, Alon Schaffer, Olmastroni, Elena, Gazzotti, Marta, Averna, Maurizio, Arca, Marcello, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano, Catapano, Alberico L, Casula, Manuela, and Laura D'Erasmo, Angelo Baldassare Cefalu, Andrea Bartuli, Paola Sabrina Buonuomo, Andrea Benso, Guglielmo Beccuti, Giacomo Biasucci, Maria Elena Capra, Gianni Biolo, Pierandrea Vinci, Luca Bonanni, Claudio Borghi, Sergio D'Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Paolo Calabrò, Francesca Carubbi, Fabio Nascimbeni, Francesco Cipollone, Marco Bucci, Nadia Citroni, Maria Del Ben, Francesco Baratta, Massimo Federici, Martina Montagna, Claudio Ferri, Serena Notargiacomo, Anna Maria Fiorenza, Emanuela Colombo, Giuliana Fortunato, Maria Donata Di Taranto, Andrea Giaccari, Simona Moffa, Francesco Giorgino, Sergio Di Molfetta, Ornella Guardamagna, Luisa De Sanctis, Arcangelo Iannuzzi, Raimondo Cavallaro, Gabriella Iannuzzo, Marco Gentile, Lorenzo Iughetti, Patrizia Bruzzi, Salvatore Lia, Alessandro Lupi, Giuseppe Mandraffino, Arianna Toscano, Rossella Marcucci, Martina Berteotti, Lorenzo Maroni, Fabiana Locatelli, Tiziana Montalcini, Giuliana Mombelli, Sandro Muntoni, Davide Baldera, Gianfranco Parati, Angelina Passaro, Valerio Pecchioli, Cristina Pederiva, Giuseppe Banderali, Antonio Pipolo, Debora D'Elia, Matteo Pirro, Vanessa Bianconi, Livia Pisciotta, Elena Formisano, Francesco Purrello, Roberto Scicali, Elena Repetti, Elena Cantino, Elisabetta Rinaldi, Elena Sani, Riccardo Sarzani, Francesco Spannella, Francesco Sbrana, Beatrice Dal Pino, Patrizia Suppressa, Veronica Cocco, Chiara Trenti, Emanuele Alberto Negri, Josè Pablo Werba, Alessandra Romandini, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti, Giulia Fainelli, Fabio Pellegatta, Liliana Grigore, Katia Bonomo, Eleonora Capatti, Ada Cutolo, Fabio Fimiani, Simonetta Genovesi, Sandro Inchiostro, Chiara Pavanello, Roberta Pujia, Alon Schaffer

Subjects
cardiovascular risk, lipoprotein(a), familial hypercholesterolemia
Abstract

Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups

Published
2023

22. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, E., Gazzotti, M., Arca, M., Averna, M., Pirillo, A., Catapano, A. L., Casula, M., Marcello, A., Maurizio, A., Stefano, B., Sebastiano, C., Luigi, C. A., Patrizia, T., Fabio, P., Andrea, B., Giacomo, B., Gianni, B., Luca, B., Katia, B., Claudio, B., Carlo, B. A., Adriana, B., Paolo, C., Francesca, C., Francesco, C., Nadia, C., Maria, D. B., Massimo, F., Claudio, F., Maria, F. A., Andrea, G., Ornella, G., Arcangelo, I., Gabriella, I., Lorenzo, I., Graziana, L., Alessandro, L., Giuseppe, M., Rossella, M., Lorenzo, M., Giuliana, M., Sandro, M., Valerio, P., Cristina, P., Antonio, P., Livia, P., Arturo, P., Francesco, P., Elena, R., Carlo, S., Riccardo, S., Chiara, T., Battista, V. G., Pablo, W. J., Sabina, Z., Grazia, Z. M., Alessia, D. C., Giuliana, F., Rossella, S., Davide, B., Giuseppe, B., Francesco, B., Guglielmo, B., Sandra, B., Patrizia, B., Marco, B., Sabrina, B. P., Elena, C. M., Iris, C., Baldassarre, C. A., Maria, C., Emanuela, C., Giuseppe, C., Laura, C. A., Ada, C., Sergio, D., Vincenzo, D., Giuseppe, D. C., Chiara, D. P., Fabio, F., Marco, G., Omar, G., Betti, G., Davide, G., Liliana, G., Giulia, M., Giancarla, M., Ilenia, M., Simona, M., Tiziana, M., Fabio, N., Alberto, N. E., Chiara, P., Lucia, P., Rita, R. A., Elena, S., Alon, S., Roberto, S., Patrizia, S., Michele, T., Pierandrea, V., Manuela, C., Enzo, M., Elena, T., Veronic, Z., Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano, Alberico Luigi, Casula, Manuela, Stefano, Bertolini, Sebastiano, Calandra, Patrizia, Tarugi, Fabio, Pellegatta, Andrea, Bartuli, Andrea, Benso, Giacomo, Biasucci, Gianni, Biolo, Luca, Bonanni, Katia, Bonomo, Claudio, Borghi, Antonio Carlo Bossi, Adriana, Branchi, Paolo, Calabrò, Francesca, Carubbi, Francesco, Cipollone, Nadia, Citroni, Maria Del Ben, Massimo, Federici, Claudio, Ferri, Anna Maria Fiorenza, Andrea, Giaccari, Ornella, Guardamagna, Arcangelo, Iannuzzi, Iannuzzo, Gabriella, Lorenzo, Iughetti, Graziana, Lupattelli, Alessandro, Lupi, Giuseppe, Mandraffino, Rossella, Marcucci, Lorenzo, Maroni, Giuliana, Mombelli, Sandro, Muntoni, Valerio, Pecchioli, Cristina, Pederiva, Antonio, Pipolo, Livia, Pisciotta, Antonio, Pujia, Francesco, Purrello, Elena, Repetti, Carlo, Sabbà, Riccardo, Sarzani, Chiara, Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina, Zambon, Maria Grazia Zenti, Alessia Di Costanzo, Fortunato, Giuliana, Rossella, Spina, Davide, Baldera, Giuseppe, Banderali, Francesco, Baratta, Guglielmo, Beccuti, Sandra, Bertocco, Patrizia, Bruzzi, Marco, Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris, Cardolini, Angelo Baldassarre Cefalù, Maria, Cinquegrani, Emanuela, Colombo, Giuseppe, Covetti, Anna Laura Cremonini, Ada, Cutolo, Sergio, D'Addato, Vincenzo, D'Ambrosio, Giuseppe De Corrado, Chiara Di Pentima, Fabio, Fimiani, Gentile, Marco, Omar, Ghirardello, Betti, Giusti, Davide, Grassi, Liliana, Grigore, Giulia, Massini, Giancarla, Meregalli, Ilenia, Minicocci, Simona, Moffa, Tiziana, Montalcini, Fabio, Nascimbeni, Emanuele Alberto Negri, Chiara, Pavanello, Lucia, Prati, Anna Rita Roscini, Elena, Sani, Alon, Schaffer, Roberto, Scicali, Patrizia, Suppressa, Michele, Tedeschi, Pierandrea, Vinci, Enzo, Manzato, Elena, Tragni, Veronica, Zampoler, and Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Pellegatta Fabio, Bartuli Andrea, Benso Andrea, Biasucci Giacomo, Biolo Gianni, Bonanni Luca, Bonomo Katia, Borghi Claudio, Bossi Antonio Carlo, Branchi Adriana, Calabrò Paolo, Carubbi Francesca, Cipollone Francesco, Citroni Nadia, Del Ben Maria, Federici Massimo, Ferri Claudio, Fiorenza Anna Maria, Giaccari Andrea, Guardamagna Ornella, Iannuzzi Arcangelo, Iannuzzo Gabriella, Iughetti Lorenzo, Lupattelli Graziana, Lupi Alessandro, Mandraffino Giuseppe, Marcucci Rossella, Maroni Lorenzo, Mombelli Giuliana, Muntoni Sandro, Pecchioli Valerio, Pederiva Cristina, Pipolo Antonio, Pisciotta Livia, Pujia Arturo, Purrello Francesco, Repetti Elena, Sabbà Carlo, Sarzani Riccardo, Trenti Chiara, Vigna Giovanni Battista, Werba Josè Pablo, Zambon Sabina, Zenti Maria Grazia. Di Costanzo Alessia, Fortunato Giuliana, Spina Rossella, Baldera Davide, Banderali Giuseppe, Baratta Francesco, Beccuti Guglielmo, Bertocco Sandra, Bruzzi Patrizia, Bucci Marco, Buonuomo Paola Sabrina, Capra Maria Elena, Cardolini Iris, Cefalù Angelo Baldassare, Cinquegrani Maria, Colombo Emanuela, Covetti Giuseppe, Cremonini Anna Laura, Cutolo Ada, D’Addato Sergio, D’Ambrosio Vincenzo, De Corrado Giuseppe, Di Pentima Chiara, Fimiani Fabio, Gentile Marco, Ghirardello Omar, Giusti Betti, Grassi Davide, Grigore Liliana, Massini Giulia, Meregalli Giancarla, Minicocci Ilenia, Moffa Simona, Montalcini Tiziana, Nascimbeni Fabio, Negri Emanuele Alberto, Pavanello Chiara, Prati Lucia, Roscini Anna Rita, Sani Elena, Schaffer Alon, Scicali Roberto, Suppressa Patrizia, Tedeschi Michele, Vinci Pierandrea, Manzato Enzo, Tragni Elena, Zampoleri Veronica

Subjects
Male, Adult, Multifactorial Inheritance, Settore MED/09 - Medicina Interna, familial hypercholesterolemia, molecular diagnosis, polygenic risk score, Cholesterol, LDL, Female, Humans, Middle Aged, Mutation, Gene Regulatory Networks, Hyperlipoproteinemia Type II, LDL, Cholesterol, molecular diagnosi
Abstract

Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P

Published
2022

23. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Casula, M. a., B, Be, Olmastroni, E. a., Pirillo, A. c., Catapano, D, A. L. b., D, Jemail, Author, Lipigen, Group, Averna, M. g., Bertolini, S. h., Calandra, S. i., Tarugi, P. i., Pellegatta, F. k., Angelico, F. f., Bartuli, A. l., Biasucci, G. m., Biolo, G. n., Bonanni, L. o., Bonomo, K. p., Borghi, C. q., Bossi, A. C. r., Branchi, A. s., Carubbi, F. t., Cipollone, F. u., Citroni, N. v., Federici, M. w., Ferri, C. x., Fiorenza, A. M. y., Giaccari, A. z., Giorgino, Aa, F., Guardamagna, Ab, O., Iannuzzi, Ac, A., Iughetti, Ad, L., Lupattelli, Ae, G., Lupi, Af, A., Mandraffino, Giuseppe, Ag, G., Marcucci, Ah, R., Maroni, Ai, L., Miccoli, Aj, R., Mombelli, Ak, G., Muntoni, Al, S., Pecchioli, Am, V., Pederiva, An, C., Pipolo, Ao, A., Pisciotta, Ap, L., Pujia, Aq, A., Purrello, Ar, F., Repetti, As, E., Rubba, At, P., Sabbà, Au, C., Sampietro, Av, T., Sarzani, Aw, R., Tagliabue, M. P., Ax, Trenti, Ay, C., Vigna, G. B., Az, Werba, J. P., Ba, Zambon, Bb, S., Zenti, M. G., Bc, Minicocci, I. f., Noto, D. g., Fortunato, Bd, G., Banderali, An, G., Benso, Ax, A., Bigolin, Bb, P., Bonora, Bc, E., Bruzzi, Ad, P., Bucci, M. u., Buonuomo, P. S. l., Capra, M. E. m., Cardolini, I. w., Cefalù, B. g., Cervelli, N. x., Chiariello, Ac, G., Cocci, Aw, G., Colombo, E. y., Cremonini, A. L., Ap, D'Addato, S. q., D'Erasmo, L. f., Dal, Pino, Av, B., Sanctis, De, Ab, L., Vita, De, Ao, E., Del, Ben, M. f., Costanzo, Di, A. f., Taranto, Di, M. D., Bd, Fasano, Ay, T., Gentile, As, L., At, M., Ghirardello, Az, O., Grigore, L. k., Lussu, Al, M., Meregalli, G. r., Moffa, S. z., Montalcini, Aq, T., Morgia, Nascimbeni, F. t., Pasta, A. h., Pavanello, Ak, C., Saitta, Antonino, Ag, A., Scicali, Ar, R., Siepi, Ae, D., Spagnolli, W. v., Spina, R. g., Sticchi, Ah, E., Suppressa, Au, P., Vigo, Ba, L., Vinci, P. n., Manzato, Bf, E., Tragni, Be, E., Zampoleri, Bg, V., Casula, Manuela, Olmastroni, Elena, Pirillo, Angela, Catapano, Alberico Luigi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Miccoli, Roberto, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Minicocci, Ilenia, Noto, Davide, Fortunato, Giuliana, Banderali, Giuseppe, Benso, Andrea, Bigolin, Paola, Bonora, Enzo, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Capra, Maria Elena, Cardolini, Iri, Cefalù, Baldassarre, Cervelli, Nazzareno, Chiariello, Giuseppe, Cocci, Guido, Colombo, Emanuela, Cremonini, Anna Laura, D'Addato, Sergio, D'Erasmo, Laura, Dal Pino, Beatrice, De Sanctis, Luisa, De Vita, Emanuele, Del Ben, Maria, Di Costanzo, Alessia, Di Taranto, Maria Donata, Fasano, Tommaso, Gentile, Luigi, Gentile, Marco, Ghirardello, Omar, Grigore, Liliana, Lussu, Milena, Meregalli, Giancarla, Moffa, Simona, Montalcini, Tiziana, Morgia, Valeria, Nascimbeni, Fabio, Pasta, Andrea, Pavanello, Chiara, Saitta, Antonino, Scicali, Roberto, Siepi, Donatella, Spagnolli, Walter, Spina, Rossella, Sticchi, Elena, Suppressa, Patrizia, Vigo, Lorenzo, Vinci, Pierandrea, Manzato, Enzo, Tragni, Elena, Zampoleri, Veronica, D'addato, Sergio, D'erasmo, Laura, Casula, M, Olmastroni, E, Pirillo, A, Catapano, A, Averna, M, Noto, D, Cefalu, B, and Spina, R

Subjects
Male, Settore MED/09 - Medicina Interna, Genetic testing, Predictive Value of Test, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Decision Support Technique, 0302 clinical medicine, Retrospective Studie, Risk Factors, Cardiovascular Disease, Genetic Marker, Prospective Studies, 030212 general & internal medicine, Age of Onset, Prospective cohort study, education.field_of_study, medicine.diagnostic_test, Middle Aged, Dutch Lipid Clinic Network score, Adult, Biomarkers, Cardiovascular Diseases, Cholesterol, LDL, Female, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Humans, Hyperlipoproteinemia Type II, Italy, Phenotype, Predictive Value of Tests, Reproducibility of Results, Retrospective Studies, Risk Assessment, Decision Support Techniques, Mutation, 3. Good health, Cholesterol, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Population, Reproducibility of Result, Physical examination, LDL, 03 medical and health sciences, Internal medicine, medicine, First-degree relatives, education, business.industry, Risk Factor, Settore MED/13 - ENDOCRINOLOGIA, Biomarker, medicine.disease, Missing data, Dutch Lipid Clinic Network score, Familial hypercholesterolemia, Genetic testing, Prospective Studie, Age of onset, business
Abstract

Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.

Published
2018

24. Gain of hTERC: a genetic marker of malignancy in oral potentially malignant lesions

Author

Giovanni Fellegara, Valentina Monti, Davide Di Ruzza, Fabrizio Neri, Silvia Gabba, Vittorio Grazioli, Tshering Dorji, Chiara Marcialis, Maria Pia Foschini, Elena Repetti, Sergio Peluso, Dorji, Tshering, Monti, Valentina, Fellegara, Giovanni, Gabba, Silvia, Grazioli, Vittorio, Repetti, Elena, Marcialis, Chiara, Peluso, Sergio, Di Ruzza, Davide, Neri, Fabrizio, and Foschini, Maria P.

Subjects
Male, Pathology, Time Factors, Predictive Value of Test, Kaplan-Meier Estimate, Risk Factors, Telomerase, In Situ Hybridization, Fluorescence, Aged, 80 and over, Human telomerase, medicine.diagnostic_test, Head and Neck Neoplasm, Medicine (all), Middle Aged, Squamous intraepithelial lesion, Head and Neck Neoplasms, Human telomerase RNA component (hTERC), Carcinoma, Squamous Cell, Disease Progression, Mouth Neoplasms, Female, Carcinoma in Situ, Oral potentially malignant lesions (OPMLs), Human, Adult, 3q26, medicine.medical_specialty, Time Factor, Biology, Precancerous Condition, Malignancy, Risk Assessment, Pathology and Forensic Medicine, FISH, Predictive Value of Tests, Biomarkers, Tumor, medicine, Humans, Genetic marker, Grading (tumors), Aged, Squamous Cell Carcinoma of Head and Neck, Risk Factor, Carcinoma in situ, Gene Amplification, Fish analysis, Oral squamous cell carcinoma (OSCC), medicine.disease, Mouth Neoplasm, stomatognathic diseases, RNA, Neoplasm Grading, Precancerous Conditions, Fluorescence in situ hybridization
Abstract

Summary Oral squamous cell carcinoma (OSCC) is the most common oral cancer, and major efforts is being made to identify molecular markers capable to differentiate oral potentially malignant lesions (OPMLs) with indolent course from lesions with aggressive behavior. We undertook a study to evaluate if gain of the human telomerase RNA component (hTERC) gene in OPMLs could indicate lesions at high risk of developing OSCC. The study was performed on 30 OPMLs with long-term follow-up using a dual-color interphase fluorescence in situ hybridization (FISH) for hTERC status. Progression to malignancy was observed in 9 of 10 cases harboring hTERC gain and in 1 of 20 cases retaining a normal copy number of hTERC (P

Published
2015

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