Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 356 Records) |
| Query Trace: Disease and FH[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 |
| 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 |
| Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024 9 16 (17): . Fiona Bruinsma, Philip Harraka, Susan Jordan, Daniel J Park, Bernard Pope, Jason Steen, Roger L Milne, Graham G Giles, Ingrid Winship, Katherine M Tucker, Melissa C Southey, Tu Nguyen-Dumo |
| 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 |
| The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy. International journal of cardiology 2024 9 417 132542. Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot, Karim Wahbi, Xavier Jeunemaître, Thibaud Damy, Clarisse Billon, |
| 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 |
| Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study. Brain : a journal of neurology 2024 8 147 (8): 2652-2667. Ana Westenberger, Volha Skrahina, Tatiana Usnich, Christian Beetz, Eva-Juliane Vollstedt, Björn-Hergen Laabs, Jefri J Paul, Filipa Curado, Snezana Skobalj, Hanaa Gaber, Maria Olmedillas, Xenia Bogdanovic, Najim Ameziane, Nathalie Schell, Jan Olav Aasly, Mitra Afshari, Pinky Agarwal, Jason Aldred, Fernando Alonso-Frech, Roderick Anderson, Rui Araújo, David Arkadir, Micol Avenali, Mehmet Balal, Sandra Benizri, Sagari Bette, Perminder Bhatia, Michael Bonello, Pedro Braga-Neto, Sarah Brauneis, Francisco Eduardo Costa Cardoso, Francesco Cavallieri, Joseph Classen, Lisa Cohen, Della Coletta, David Crosiers, Paskal Cullufi, Khashayar Dashtipour, Meltem Demirkiran, Patricia de Carvalho Aguiar, Anna De Rosa, Ruth Djaldetti, Okan Dogu, Maria Gabriela Dos Santos Ghilardi, Carsten Eggers, Bulent Elibol, Aaron Ellenbogen, Sibel Ertan, Giorgio Fabiani, Björn H Falkenburger, Simon Farrow, Tsviya Fay-Karmon, Gerald J Ferencz, Erich Talamoni Fonoff, Yara Dadalti Fragoso, Gençer Genç, Arantza Gorospe, Francisco Grandas, Doreen Gruber, Mark Gudesblatt, Tanya Gurevich, Johann Hagenah, Hasmet A Hanagasi, Sharon Hassin-Baer, Robert A Hauser, Jorge Hernández-Vara, Birgit Herting, Vanessa K Hinson, Elliot Hogg, Michele T Hu, Eduardo Hummelgen, Kelly Hussey, Jon Infante, Stuart H Isaacson, Serge Jauma, Natalia Koleva-Alazeh, Gregor Kuhlenbäumer, Andrea Kühn, Irene Litvan, Lydia López-Manzanares, McKenzie Luxmore, Sujeena Manandhar, Veronique Marcaud, Katerina Markopoulou, Connie Marras, Mark McKenzie, Michele Matarazzo, Marcelo Merello, Brit Mollenhauer, John C Morgan, Stephen Mullin, Thomas Musacchio, Bennett Myers, Anna Negrotti, Anette Nieves, Zeev Nitsan, Nader Oskooilar, Özgür Öztop-Çakmak, Gian Pal, Nicola Pavese, Antonio Percesepe, Tommaso Piccoli, Carolina Pinto de Souza, Tino Prell, Mark Pulera, Jason Raw, Kathrin Reetz, Johnathan Reiner, David Rosenberg, Marta Ruiz-Lopez, Javier Ruiz Martinez, Esther Sammler, Bruno Lopes Santos-Lobato, Rachel Saunders-Pullman, Ilana Schlesinger, Christine M Schofield, Artur F Schumacher-Schuh, Burton Scott, Ángel Sesar, Stuart J Shafer, Ray Sheridan, Monty Silverdale, Rani Sophia, Mariana Spitz, Pantelis Stathis, Fabrizio Stocchi, Michele Tagliati, Yen F Tai, Annelies Terwecoren, Sven Thonke, Lars Tönges, Giulia Toschi, Vitor Tumas, Peter Paul Urban, Laura Vacca, Wim Vandenberghe, Enza Maria Valente, Franco Valzania, Lydia Vela-Desojo, Caroline Weill, David Weise, Joanne Wojcieszek, Martin Wolz, Gilad Yahalom, Gul Yalcin-Cakmakli, Simone Zittel, Yair Zlotnik, Krishna K Kandaswamy, Alexander Balck, Henrike Hanssen, Max Borsche, Lara M Lange, Ilona Csoti, Katja Lohmann, Meike Kasten, Norbert Brüggemann, Arndt Rolfs, Christine Klein, Peter Bau |
| 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 |
| Prognostic value of germline mutations in metastatic hormone-sensitive prostate cancer (mHSPC). Urologic oncology 2024 6 . Sara Custodio-Cabello, Vilma Pacheco-Barcia, Magda Palka-Kotlowska, Laura Fernández-Hernández, Julio Fernández Del Álamo, Eduardo Oliveros-Acebes, Luis Cabezón-Gutiérr |
| 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 |
| 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 |
| 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 |
| Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis. Immunogenetics 2024 11 77 (1): 4. Lazara Elena Santiesteban-Lores, Leonardo Moura Midon, ThirsaAlvares Franco, Luciano Marcondes de Oliveira, Sumire Hibi, Yosena Chiani, GdayllonCavalcante Meneses, Elizabeth De Francesco Daher, Denise Moraes Fonseca, Alessandra Pontillo, Lourdes Isa |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project. European journal of preventive cardiology 2024 11 . Martin Bird, Antoine Rimbert, Alan M Pittman, Steve E Humphries, Marta Fute |
| 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 |
| Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients. JACC. Clinical electrophysiology 2024 10 . Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwar |
| Anti-factor B antibodies in atypical hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2024 1 . Priyanka Khandelwal, Shreesha Nambiar, Rahul Saini, Savita Saini, Poonam Coshic, Aditi Sinha, Pankaj Hari, Jayanth Kumar Palanichamy, Arvind Bag |
| 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 |
| A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. F&S reports 2024 1 4 (4): 410-415. Yiyin Ruan, Weiwei Feng, Chenmin Ya |
| 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 |
| Association between choroidal microvasculature in the eye and Alzheimer's disease risk in cognitively healthy mid-life adults: A pilot study. Alzheimer's & dementia (Amsterdam, Netherlands) 2025 1 17 (1): e70075. Jamie Burke, Samuel Gibbon, Audrey Low, Charlene Hamid, Megan Reid-Schachter, Graciela Muniz-Terrera, Craig W Ritchie, Baljean Dhillon, John T O'Brien, Stuart King, Ian J C MacCormick, Thomas J MacGillivr |
| 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 |
- Page last reviewed:Feb 1, 2024
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