Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

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

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

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

Authors: Vallejo-Vaz, Antonio J., Akram, Asif, Kondapally Seshasai, Sreenivasa Rao, Cole, Della, Watts, Gerald F., Hovingh, G. Kees, Kastelein, John J.P., Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Freiberger, Tomas, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Banach, Maciej, Bogsrud, Martin P., Bourbon, Mafalda, Bruckert, Eric, Car, Josip, Ceska, Richard, Corral, Pablo, Descamps, Olivier, Dieplinger, Hans, Do, Can T., Durst, Ronen, Ezhov, Marat V., Fras, Zlatko, Gaita, Dan, Gaspar, Isabel M., Genest, Jaques, Harada-Shiba, Mariko, Jiang, Lixin, Kayikcioglu, Meral, Lam, Carolyn S.P., Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lin, Jie, Lin, Nan, Maher, Vincent, Majano, Nelson, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nilsson, Lennart, Nordestgaard, Børge G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Reiner, Željko, Sahebkar, Amirhossein, Santos, Lourdes E., Schunkert, Heribert, Shehab, Abdullah, Slimane, M. Naceur, Stoll, Mario, Su, Ta-Chen, Susekov, Andrey, Tilney, Myra, Tomlinson, Brian, Tselepis, Alexandros D., Vohnout, Branislav, Widén, Elisabeth, Yamashita, Shizuya, Catapano, Alberico L., Ray, Kausik K.

Source: In Atherosclerosis (Supplements) (Component) December 2016 22:1-32

Familial hypercholesterolaemia: A global call to arms

Authors: Vallejo-Vaz, Antonio J., Kondapally Seshasai, Sreenivasa Rao, Cole, Della, Hovingh, G. Kees, Kastelein, John J.P., Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Akram, Asif, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Banach, Maciej, Bogsrud, Martin P., Bourbon, Mafalda, Bruckert, Eric, Car, Josip, Corral, Pablo, Descamps, Olivier, Dieplinger, Hans, Durst, Ronen, Freiberger, Tomas, Gaspar, Isabel M., Genest, Jaques, Harada-Shiba, Mariko, Jiang, Lixin, Kayikcioglu, Meral, Lam, Carolyn S.P., Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Nilsson, Lennart, Nordestgaard, Børge G., O'Donoghue, John M., Sahebkar, Amirhossein, Schunkert, Heribert, Shehab, Abdulla, Stoll, Mario, Su, Ta-Chen, Susekov, Andrey, Widén, Elisabeth, Catapano, Alberico L., Ray, Kausik K.

Source: In Atherosclerosis November 2015 243(1):257-259

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Authors: Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra R

Source: BMC Medical Genetics, Vol 13, Iss 1, p 17 (2012)

Subject Terms: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gene, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/13/17; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/188b1051ec1d4ddaaa71868795b49681

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Authors: Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Cillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., de Ferranti, Sarah, Eiselé, Jean-Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioglu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Mensah, George A., Miserez, André R., Neely, Dermot, Nicholls, Stephen J., Nohara, Atsushi, Nordestgaard, Børge G., Ose, Leiv, Pallidis, Athanasios, Pang, Jing, Payne, Jules, Peterson, Amy L., Popescu, Monica P., Puri, Raman, Ray, Kausik K., Reda, Ashraf, Sampietro, Tiziana, Santos, Raul D., Schalkers, Inge, Schreier, Laura, Shapiro, Michael D., Sijbrands, Eric, Soffer, Daniel, Stefanutti, Claudia, Stoll, Mario, Sy, Rody G., Tamayo, Martha L., Tilney, Myra K., Tokgözoglu, Lale, Tomlinson, Brian, Vallejo-Vaz, Antonio J., Vazquez-Cárdenas, Alejandra, de Luca, Patrícia Vieira, Wald, David S., Watts, Gerald F., Wenger, Nanette K., Wolf, Michaela, Wood, David, Zegerius, Aram, Gaziano, Thomas A., Gidding, Samuel S.

Source: JAMA Cardiology; February 2020, Vol. 5 Issue: 2 p217-229, 13p