Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 494 Records) |
| Query Trace: Familial hypercholesterolemia[original query] |
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| Polygenic risk of high LDL cholesterol and ischemic heart disease in the general population. Atherosclerosis 2024 9 397 118574. Tim Møller Eyrich, Nawar Dalila, Mette Christoffersen, Anne Tybjærg-Hansen, Stefan Stend |
| Relationship between coronary artery disease with dyslipidaemia and trace mineral intake: a cross-sectional analysis of the Shika study. Journal of nutritional science 2024 9 13 e45. Kei Kimura, Fumihiko Suzuki, Hiromasa Tsujiguchi, Akinori Hara, Sakae Miyagi, Takayuki Kannon, Keita Suzuki, Yukari Shimizu, Thao Thi Thu Nguyen, Koji Katano, Atsushi Asai, Tomoko Kasahara, Masaharu Nakamura, Chie Takazawa, Koichiro Hayashi, Toshio Hamagishi, Aki Shibata, Takehiro Sato, Akihiro Nomura, Tadashi Konoshita, Yasuhiro Kambayashi, Hirohito Tsuboi, Atsushi Tajima, Takayuki Kobayashi, Hiroyuki Nakamu |
| Gene Mutation in Patients with Familial Hypercholesterolemia and Response to Alirocumab Treatment-A Single-Centre Analysis. Journal of clinical medicine 2024 9 13 (18): . Joanna Rogozik, Jakub Kosma Rokicki, Marcin Grabowski, Renata G?ówczy?s |
| Prevalence of genetically diagnosed familial hypercholesterolemia in Vietnamese patients with premature acute myocardial infarction. Medicine 2024 9 103 (39): e39939. Kha Minh Nguyen, Sy Van Hoa |
| Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration? Nutrition, metabolism, and cardiovascular diseases : NMCD 2024 9 . Antonina Giammanco, Davide Noto, Emilio Nardi, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Rossella Spina, Carlo Maria Barbagallo, Rosalia Caldarella, Marcello Ciaccio, Angelo Baldassare Cefalù, Maurizio Aver |
| Polygenic Risk and Coronary Artery Disease Severity. Circulation. Genomic and precision medicine 2024 8 e004470. Alborz Sherafati, Kristjan Norland, Mohammadreza Naderian, Daniel J Schaid, Iftikhar J Kul |
| Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels. Frontiers in cardiovascular medicine 2024 8 11 1433042. Antti Jokiniitty, Markku Eskola, Saara Metso, Martin Bogsrud, Heini Huhtala, Tanja Saare |
| Polygenic Risk, Rare Variants, and Family History: Independent and Additive Effects on Coronary Heart Disease. JACC. Advances 2024 6 2 (7): 100567. Seyedmohammad Saadatagah, Mohammadreza Naderian, Ozan Dikilitas, Marwan E Hamed, Hana Bangash, Iftikhar J Kul |
| Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia. JACC. Advances 2024 6 2 (9): 100662. Laurens F Reeskamp, Injeong Shim, Jacqueline S Dron, Shirin Ibrahim, Tycho R Tromp, Akl C Fahed, Aniruddh P Patel, Barbara A Hutten, Erik S G Stroes, G Kees Hovingh, Amit V Khe |
| Cascade screening for familial hypercholesterolemia from pediatric index cases diagnosed through universal screening. Journal of clinical lipidology 2024 6 . Morgan Lentz, Megan Benoy, Xiao Zhang, Amy L Peters |
| PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes. Cardiovascular drugs and therapy 2024 6 . Daniela Grejtakova, Iveta Boronova, Jarmila Bernasovska, Stefano Bellos |
| Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia. Arteriosclerosis, thrombosis, and vascular biology 2024 5 . Mark Trinder, Lubomira Cermakova, Isabelle Ruel, Alexis Baass, Martine Paquette, Jian Wang, Brooke A Kennedy, Robert A Hegele, Jacques Genest, Liam R Brunh |
| Ocular manifestations of severe familial hypercholesterolemia. Heliyon 2024 5 10 (9): e30487. Alaa Bou Ghannam, Rachid Istambouli, Mohamed S Hamam, Jean M Chalhoub, Akl C Fahed, Rola N Ham |
| Impact of changes in Achilles tendon thickening on cardiovascular events in patients with familial hypercholesterolemia. American journal of preventive cardiology 2024 4 18 100660. Hayato Tada, Nobuko Kojima, Yasuaki Takeji, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamu |
| Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia. Genes 2024 4 15 (4): . Giovanna Cardiero, Martina Ferrandino, Ilenia Lorenza Calcaterra, Gabriella Iannuzzo, Matteo Nicola Dario Di Minno, Raffaele Buganza, Ornella Guardamagna, Renata Auricchio, Maria Donata Di Taranto, Giuliana Fortuna |
| Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life. Journal of cardiovascular development and disease 2024 4 11 (4): . Raffaele Buganza, Giulia Massini, Maria Donata Di Taranto, Giovanna Cardiero, Luisa de Sanctis, Ornella Guardamag |
| Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system. Cell reports. Medicine 2024 4 101518. Iain S Forrest, Áine Duffy, Joshua K Park, Ha My T Vy, Louis R Pasquale, Girish N Nadkarni, Judy H Cho, Ron |
| Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia. Journal of clinical lipidology 2024 12 . Martine Paquette, Isabelle Ruel, Simon-Pierre Guay, Zobaida Al-Baldawi, Diane Brisson, Daniel Gaudet, Patrick Couture, Jean Bergeron, Robert A Hegele, Gordon A Francis, Mark H Sherman, Ruth McPherson, Thomas Ransom, Liam R Brunham, Gb John Mancini, Brian W McCrindle, Iulia Iatan, Jacques Genest, Alexis Baa |
| Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education. Mayo Clinic proceedings 2024 12 . Lorelei A Bandel, Robert A Vierkant, Teresa M Kruisselbrink, Michelle L Bublitz, Tammy A Wilson, Sebastian M Armasu, Jan B Egan, Richard J Presutti, Niloy Jewel J Samadder, Aleksandar Sekulic, Rory J Olson, Jennifer Tan-Arroyo, Joel A Morales-Rosado, Eric W Klee, Matthew J Ferber, Jennifer L Kemppainen, Jennifer L Anderson, Jessa S Bidwell, Joseph J Wick, Victor E Ortega, William V Bobo, Pavel N Pichurin, Jessica M Mcmillan, DeAnna M Weaver, Douglas L Riegert-Johnson, Alanna M Cera, Lauren M Boucher, Iftikhar J Kullo, Sarah K Mantia, Matthew T Jones, Nicholas B Larson, Tony C Luehrs, Jon W Leitzke, Hugues Sicotte, Shulan Tian, Jennifer R Stavlund, Joel E Pacyna, Richard R Sharp, Akwasi A Asabere, James Lu, Tammy M McAllister, T'Nita S Walker, A Keith Stewart, Gianrico Farrugia, Konstantinos N Lazarid |
| Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study. Lipids in health and disease 2024 12 23 (1): 423. Meng-Na Huang, Chen-Cen Wang, Ming-Sheng Ma, Mei-Zhu Chi, Qing Zhou, Li-Hong Jiang, Chun-Lin Wang, Mei Lu, Xiao-Quan Chen, Ya-Ying Cheng, Qing Ke, Da-Yan Wang, Xiao-Xia Qian, Xiao-Ming Ying, Jian-Ping Zhang, Qun-Hua Shen, Li-Fang Liu, Rui Gu, Zhen-Jie Zhang, Jian-Hua Feng, Min Wang, Ming-Qiang Zhu, Ke Huang, Jun-Fen Fu, Chao-Chun Z |
| SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease. BMC cardiovascular disorders 2024 12 24 (1): 737. Yihan Wang, Chuang Li, Wenshu Zhao, Ying Dong, Peijia Wa |
| Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach. Bioinformatics and biology insights 2024 12 18 11779322241301267. Ngoc-Thanh Kim, Doan-Loi Do, Mai-Ngoc Thi Nguyen, Hong-An Le, Thanh-Tung Le, Thanh-Huong Truo |
| New cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants. Journal of diabetes and metabolic disorders 2024 12 24 (1): 13. Júnea Paolucci de Paiva Silvino, Cinthia Elim Jannes, Rodrigo Mendonça Cardoso Pestana, Lucas Paolucci de Paiva Silvino, Iêda de Fátima Oliveira Silva, Karina Braga Gom |
| Causal relationships of familial hypercholesterolemia with the risk of multiple vitamin deficiencies: a Mendelian randomization study. Frontiers in endocrinology 2024 11 15 1401260. Cheng Zhang, Gang Wei, Huan Zhou, Lin L |
| Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical-by-Descent Pathogenic LDLR Gene Variants: A Proof-of-Concept Study. Journal of clinical medicine 2024 10 13 (19): . Miriam Larouche, Olivier Bluteau, Alain Carrié, Alex Lauzière, Etienne Khoury, Diane Brisson, Daniel Gaudet, Antonio Gal |
| Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries. European journal of internal medicine 2024 1 . Asiiat Alieva, Alessia Di Costanzo, Marta Gazzotti, Olga Reutova, Elena Usova, Viktoria Bakaleiko, Marcello Arca, Laura D'Erasmo, Fabio Pellegatta, Federica Galimberti, Elena Olmastroni, Alberico L Catapano, Manuela Casu |
| A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants. Neurology. Genetics 2024 1 9 (5): e200099. Kotaro Noda, Yorito Hattori, Mika Hori, Mariko Harada-Shiba, Masafumi Iha |
| Integrative analysis of miRNAs and proteins in plasma extracellular vesicles of patients with familial hypercholesterolemia. Clinica chimica acta; international journal of clinical chemistry 2025 1 568 120123. Renata Caroline Costa de Freitas, Raul Hernandes Bortolin, Shiori Kuraoka, Maximillian A Rogers, Mark C Blaser, Sarvesh Chelvanambi, Jessica Bassani Borges, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Gisele Medeiros Bastos, Elisangela da Silva Rodrigues Marçal, Vanessa Barbosa Malaquias, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Vivian Nogueira Silbiger, André Ducati Luchessi, Masanori Aikawa, Rosario Dominguez Crespo Hirata, Sasha A Singh, Elena Aikawa, Mario Hiroyuki Hira |
| Genetic Predisposition to Low-Density Lipoprotein Cholesterol and Incident Type 2 Diabetes. JAMA cardiology 2025 1 . Akshaya Ravi, Satoshi Koyama, So Mi Jemma Cho, Sara Haidermota, Whitney Hornsby, Patrick T Ellinor, Pradeep Nataraj |
| Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach. Atherosclerosis plus 2025 1 59 1-9. Emma Adolfsson, Nils Johan Fredriksson, Jon Jonasson, Anna Nordenskjöld, Anna Gre |
- Page last reviewed:Feb 1, 2024
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