Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 285 Records) |
| Query Trace: Hypercholesterolemia and Ldlr[original query] |
|---|
| 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 |
| LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach. Molecular biology reports 2023 9 . Renata Caroline Costa de Freitas, Raul Hernandes Bortolin, Jessica Bassani Borges, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Vivian Nogueira Silbiger, André Ducati Luchessi, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
| Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs. Gene 2023 9 147821. Augusto Akira Mori, Vanessa Barbosa Malaquias, Kennedy Bonjour, Glaucio Monteiro Ferreira, Raul Hernandes Bortolin, Jéssica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Gisele Monteiro Bastos, Helena Thurow, Marcelo Ferraz Sampaio, Rozana Mesquita Ciconelli, Adriano Namo Cury, Cristina Moreno Fajardo, Rosario Dominguez Crespo Hirata, Mário Hiroyuki Hira |
| 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 |
| Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing. Journal of clinical medicine 2023 8 12 (15): . Gustavs Latkovskis, Raimonds Rescenko-Krums, Georgijs Nesterovics, Monta Briviba, Vita Saripo, Dainus Gilis, Elizabete Terauda, Ruta Meiere, Gunda Skudrina, Andrejs Erglis, Joana Rita Chora, Mafalda Bourbon, Janis Klovi |
| 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 |
| 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 |
| 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 |
| Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype. Journal of lipid research 2023 12 100490. Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, |
| 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 |
| 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 |
| 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 |
| The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor. Atherosclerosis 2024 11 399 118596. Yara Azar, Thomas E Ludwig, Hugo Le Bon, Thea Bismo Strøm, Olivier Bluteau, Mathilde Di-Filippo, Alain Carrié, Hedi Chtioui, Sophie Béliard, Oriane Marmontel, Annie Fonteille, Maite Gebhart, Noël Peretti, Philippe Moulin, Jean Ferrières, Alain Pradignac, Michel Farnier, Antonio Gallo, Cécile Yelnik, Dirk Blom, Emmanuelle Génin, Martin Prøven Bogsrud, Trond P Leren, Catherine Boileau, Marianne Abifadel, Jean-Pierre Rabès, Mathilde Varr |
| Low-Density Lipoprotein Receptor Apolipoprotein B Gene Polymorphism in Kurdish Patients With Severe Hypercholesterolemia. Cureus 2024 10 16 (9): e70387. Saeed Sabri, Sherwan Salih, Dhia Al-Timi |
| 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 |
| 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 |
| 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
- Content source: