Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 467 Records) |
Query Trace: Familial hypercholesterolemia[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 |
Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia. Journal of clinical lipidology 2023 9 . Akihiro Nomura, Hirofumi Okada, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamura, Hayato Ta |
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 |
Sailing the Uncharted Waters of Familial Hypercholesterolemia LDL Receptor Genetic-Related Variants: Land in Sight? JACC. Basic to translational science 2023 9 8 (8): 1022-1024. Raul D Sant |
Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients. Frontiers in cardiovascular medicine 2023 8 10 1182554. Anthony Matta, Jean Pierre Rabès, Dorota Taraszkiewicz, Didier Carrié, Jérôme Roncalli, Jean Ferrièr |
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 |
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank. Arteriosclerosis, thrombosis, and vascular biology 2023 7 . Jasmine Gratton, Steve E Humphries, Marta Fute |
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 |
Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. Cardiology research and practice 2023 5 2023 2236422. Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fuku |
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 |
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. Circulation 2023 5 147 (20): 1556-1559. Yiyi Zhang, Jacqueline S Dron, Brandon K Bellows, Amit V Khera, Junxiu Liu, Pallavi P Balte, Elizabeth C Oelsner, Sami Samir Amr, Matthew S Lebo, Anna Nagy, Gina M Peloso, Pradeep Natarajan, Jerome I Rotter, Cristen Willer, Eric Boerwinkle, Christie M Ballantyne, Pamela L Lutsey, Myriam Fornage, Donald M Lloyd-Jones, Lifang Hou, Bruce M Psaty, Joshua C Bis, James S Floyd, Ramachandran S Vasan, Nancy L Heard-Costa, April P Carson, Michael E Hall, Stephen S Rich, Xiuqing Guo, Dhruv S Kazi, Sarah D de Ferranti, Andrew E Mor |
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia. Journal of the American Heart Association 2023 5 12 (10): e029223. Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L Catapano, Manuela Casula, |
Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease. European journal of preventive cardiology 2023 4 . Jowell Amanda, Bhattacharya Romit, Marnell Christopher, Wong Megan, Haidermota Sara, Trinder Mark, Fahed Akl C, Peloso Gina M, Honigberg Michael C, Natarajan Prade |
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients. International journal of molecular sciences 2023 4 24 (8): . Carmen Rodríguez-Jiménez, Gema de la Peña, Javier Sanguino, Sara Poyatos-Peláez, Ana Carazo, Pedro L Martínez-Hernández, Francisco Arrieta, José M Mostaza, Diego Gómez-Coronado, Sonia Rodríguez-Nóv |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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