Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 483 Records) |
Query Trace: Familial hypercholesterolemia[original query] |
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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 |
Is It Ever Wise to Edit Wild-Type Alleles? Engineered CRISPR Alleles Versus Millions of Years of Human Evolution. Arteriosclerosis, thrombosis, and vascular biology 2023 12 . Darby W Kozan, Steven A Farb |
Integrated omics analysis of coronary artery calcifications and myocardial infarction: the Framingham Heart Study. Scientific reports 2023 12 13 (1): 21581. Amalie Lykkemark Møller, Ramachandran S Vasan, Daniel Levy, Charlotte Andersson, Honghuang L |
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, |
E670G PCSK9 polymorphism in HeFH & CAD with diabetes: is the bridge to personalized therapy within reach? Frontiers in clinical diabetes and healthcare 2023 11 4 1277288. Rano Alieva, Aleksandr Shek, Alisher Abdullaev, Khurshid Fozilov, Shovkat Khoshimov, Guzal Abdullaeva, Dariya Zakirova, Rano Kurbanova, Lilia Kan, Andrey K |
Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia. Acta biochimica Polonica 2023 11 . May Salem Al-Nbahe |
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 |
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction. Scientific reports 2023 10 13 (1): 16942. Wen-Jane Lee, Han-Ni Chuang, Tzu-Hung Hsiao, Wen-Lieng Lee, Jen-Pey Wu, Wayne H-H Sheu, Kae-Woei Lia |
Decreased Serum Stromal Cell-Derived Factor-1 in Patients with Familial Hypercholesterolemia and Its Strong Correlation with Lipoprotein Subfractions. International journal of molecular sciences 2023 10 24 (20): . Lilla Juhász, Hajnalka L?rincz, Anita Szentpéteri, Nóra Tóth, Éva Varga, György Paragh, Mariann Haran |
Genetic backgrounds and diagnosis of familial hypercholesterolemia. Clinical genetics 2023 10 . Joanna Rogozik, Renata G?ówczy?ska, Marcin Grabows |
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 |
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 |
- Page last reviewed:Feb 1, 2024
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