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Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE. Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2023 1 51 (1): 10-21. Abedi Amir Hossein, Y?ld?r?m ?im?ir Ilg?n, Bayram Fahri, Onay Huseyin, Özgür Su, Mcintyre Adam, Toth Peter, Hegele Robe |
Identification of genetic variants related to metabolic syndrome by next-generation sequencing. Diabetology & metabolic syndrome 2022 Aug 14 (1): 119. Lee Sanghoo, Kim Seol-A, Hong Jeonghoon, Kim Yejin, Hong Gayeon, Baik SaeYun, Choi Kyeonghwan, Lee Mi-Kyeong, Lee Kyoung-Ry |
Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia. Lipids in health and disease 2021 2 20 (1): 14. Cruz-Bautista Ivette, Huerta-Chagoya Alicia, Moreno-Macías Hortensia, Rodríguez-Guillén Rosario, Ordóñez-Sánchez María Luisa, Segura-Kato Yayoi, Mehta Roopa, Almeda-Valdés Paloma, Gómez-Munguía Lizeth, Ruiz-De Chávez Ximena, Rosas-Flota Ximena, Andrade-Amado Arali, Bernal-Barroeta Bárbara, López-Carrasco María Guadalupe, Guillén-Pineda Luz Elizabeth, López-Estrada Angelina, Elías-López Daniel, Martagón-Rosado Alexandro J, Gómez-Velasco Donají, Lam-Chung Cesar Ernesto, Bello-Chavolla Omar Yaxmehen, Del Razo-Olvera Fabiola, Cetina-Pérez Lucely D, Acosta-Rodríguez José Luis, Tusié-Luna María Teresa, Aguilar-Salinas Carlos |
Novel PPARG mutation in multiple family members with chylomicronemia. Journal of clinical lipidology 2021 4 15 (3): 431-434. Glodowski Michele, Christen Shannon, Saxon David R, Hegele Robert A, Eckel Robert |
Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome. The Journal of clinical endocrinology and metabolism 2021 5 106 (9): e3473-e3482. Paquette Martine, Amyot Julie, Fantino Manon, Baass Alexis, Bernard Soph |
Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia. Journal of clinical lipidology 2020 Nov . Gill Praneet K, Dron Jacqueline S, Dilliott Allison A, McIntyre Adam D, Cao Henian, Wang Jian, Movsesyan Irina G, Malloy Mary J, Pullinger Clive R, Kane John P, Hegele Robert |
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia. Molecular genetics and metabolism reports 2020 3 23 100576. Plengpanich Wanee, Muanpetch Suwanna, Charoen Supannika, Kiateprungvej Arunrat, Khovidhunkit Weerap |
Genetics of Hypertriglyceridemia. Frontiers in endocrinology 2020 8 11 455. Dron Jacqueline S, Hegele Robert |
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia. Journal of atherosclerosis and thrombosis 2020 3 27 (12): 1264-1277. Matsunaga Akira, Nagashima Mariko, Yamagishi Hideko, Saku Keiji |
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. Lipids in health and disease 2019 3 18 (1): 68. Chen Wei-Wei, Yang Qi, Li Xiao-Yao, Shi Xiao-Lei, Pu Na, Lu Guo-Tao, Tong Zhi-Hui, Chen Jian-Min, Li Wei-Q |
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes. Arteriosclerosis, thrombosis, and vascular biology 2019 10 39 (12): 2531-2541. D'Erasmo Laura, Di Costanzo Alessia, Cassandra Francesca, Minicocci Ilenia, Polito Luca, Montali Anna, Ceci Fabrizio, Arca Marcel |
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis. EBioMedicine 2018 Dec 38 171-177. Jin Jing-Lu, Sun Di, Cao Ye-Xuan, Zhang Hui-Wen, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Gao Ying, Dong Qiu-Ting, Liu Geng, Dong Qian, Li Jian-J |
A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient. Journal of atherosclerosis and thrombosis 2018 6 26 (2): 136-144. Liu Yihui, Xu Jiang, Tao Wanyun, Yu Rong, Zhang Xinjia |
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis. Lipids in health and disease 2018 6 17 (1): 144. Li Xiaoyao, Yang Qi, Shi Xiaolei, Chen Weiwei, Pu Na, Li Weiqin, Li Jiesh |
Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants. Journal of digestive diseases 2017 Jun 18 (6): 359-368. Chen Wan Jun, Sun Xiao Fan, Zhang Rui Xue, Xu Min Jie, Dou Tong Hai, Zhang Xiao Bin, Zhong Min, Yang Wei Qiang, Liu Li, Lu Xiao Ye, Zhu Chang Qi |
Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain. Lipids in health and disease 2016 15 (1): 82. Lamiquiz-Moneo Itziar, Blanco-Torrecilla Cristian, Bea Ana M, Mateo-Gallego Rocío, Pérez-Calahorra Sofía, Baila-Rueda Lucía, Cenarro Ana, Civeira Fernando, de Castro-Orós Isab |
Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis. PloS one 2015 10 (6): e0129488. Xie Sai-Li, Chen Tan-Zhou, Huang Xie-Lin, Chen Chao, Jin Rong, Huang Zhi-Ming, Zhou Meng-T |
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. Circulation. Cardiovascular genetics 2012 Feb 5 (1): 66-72. Johansen Christopher T, Wang Jian, McIntyre Adam D, Martins Rebecca A, Ban Matthew R, Lanktree Matthew B, Huff Murray W, Péterfy Miklós, Mehrabian Margarete, Lusis Aldons J, Kathiresan Sekar, Anand Sonia S, Yusuf Salim, Lee Ann-Hwee, Glimcher Laurie H, Cao Henian, Hegele Robert |
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia. Clinica chimica acta; international journal of clinical chemistry 2011 Nov 412 (23-24): 2194-8. Pisciotta Livia, Fresa Raffaele, Bellocchio Antonella, Guido Virgilia, Priore Oliva Claudio, Calandra Sebastiano, Bertolini Stefa |
[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia]. Cli?nica e investigacio?n en arteriosclerosis : publicacio?n oficial de la Sociedad Espan?ola de Arteriosclerosis 0 27 (5): 246-52. Lamiquiz-Moneo Itziar, Bea Ana M, Mateo-Gallego Rocío, Baila-Rueda Lucía, Cenarro Ana, Pocoví Miguel, Civeira Fernando, de Castro-Orós Isab |
Severe hypertriglyceridemia is primarily polygenic. Journal of clinical lipidology 0 13 (1): 80-88. Dron Jacqueline S, Wang Jian, Cao Henian, McIntyre Adam D, Iacocca Michael A, Menard Jyler R, Movsesyan Irina, Malloy Mary J, Pullinger Clive R, Kane John P, Hegele Robert |
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