Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 307 Records) |
| Query Trace: Disease and LDLR[original query] |
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| Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 9 e004103. Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeska |
| Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia. JACC. Asia 2023 8 3 (4): 625-633. Kotaro Noda, Yorito Hattori, Mika Hori, Yuriko Nakaoku, Akito Tanaka, Takeshi Yoshimoto, Kunihiro Nishimura, Takanori Yokota, Mariko Harada-Shiba, Masafumi Iha |
| Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ open 2023 8 11 (4): E754-E764. Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor, Jacques Gene |
| Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores. Clinical genetics 2023 7 . Gunda Schwaninger, Lukas Forer, Christoph Ebenbichler, Hans Dieplinger, Florian Kronenberg, Johannes Zschocke, Martina Witsch-Baumgartn |
| Association between the use of lipid-lowering drugs and the risk of inflammatory bowel disease. European journal of clinical investigation 2023 7 e14067. Xuxu Liu, Zhenyi Lv, Zhihong Xie, Qiang Wang, Wenchao Yao, Jingjing Yu, Qingxu Jing, Xianzhi Meng, Biao Ma, Dongbo Xue, Chenjun H |
| Large-Scale CRISPR Screen of LDLR Pathogenic Variants. Research (Washington, D.C.) 2023 7 6 0203. Mengjing Li, Lerong Ma, Yiwu Chen, Jianing Li, Yanbing Wang, Wenni You, Hongming Yuan, Xiaochun Tang, Hongsheng Ouyang, Daxin Pa |
| Cholesterol contributes to risk, severity, and machine learning-driven diagnosis of Lyme disease. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2023 5 . Iain S Forrest, Anya J O'Neal, Joao H F Pedra, Ron |
| Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. Gene 2023 5 875 147501. Jéssica Bassani Borges, Victor Fernandes Oliveira, Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Thais Kristini Almendros Afonso Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco Araújo, Henry Zatz, Adriana Bertolami, André Arpad Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder Takashi Imoto Nakaya, Cinthia Elim Jannes, Alexandre da Costa Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patricia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tania Cristina Pithon-Curi, Rui Curi, Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garófalo, Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning. Vavilovskii zhurnal genetiki i selektsii 2023 10 27 (5): 522-529. D E Ivanoshchuk, A B Kolker, O V Timoshchenko, S E Semaev, E V Shakhtshneid |
| Genetic backgrounds and diagnosis of familial hypercholesterolemia. Clinical genetics 2023 10 . Joanna Rogozik, Renata G?ówczy?ska, Marcin Grabows |
| Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease. Atherosclerosis 2023 10 117327. Nella Junna, Sanni Ruotsalainen, Pietari Ripatti, FinnGen, Samuli Ripatti, Elisabeth Wid |
| 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 |
| 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 |
| 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 |
| 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 |
| Functional interrogation of cellular Lp(a) uptake by genome-scale CRISPR screening. bioRxiv : the preprint server for biology 2024 5 . Taslima G Khan, Juliana Bragazzi Cunha, Chinmay Raut, Michael Burroughs, Sascha N Goonewardena, Alan V Smrcka, Elizabeth K Speliotes, Brian T Emm |
| Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia. Lipids in health and disease 2024 4 23 (1): 106. Hong-Liang Zhao, Yang You, Yan Tian, Luyan Wang, Yongqiang An, Guoqiang Zhang, Chang Shu, Mingxin Yu, Yihua Zhu, Qian Li, Yanwei Zhang, Ningling Sun, Songnian Hu, Gang L |
| 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 |
| 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 |
| 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 |
| 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 |
| Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 2024 1 16 (1): 5. Chiara Auwerx, Maarja Jõeloo, Marie C Sadler, Nicolò Tesio, Sven Ojavee, Charlie J Clark, Reedik Mägi, , Alexandre Reymond, Zoltán Kutal |
| Identifying genetic susceptibility loci associated with human coronary artery disease. PloS one 2025 1 20 (1): e0315460. Aqsa Zahid, Andleeb Batool, Abdul Wajid, Yurong Wu, Chun Liang, Muhammad Ajmal Khan, Amin Ullah, Kashif Iqbal Sahibzada, Hong X |
| 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 |
- Page last reviewed:Feb 1, 2024
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