Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 443 Records) |
| Query Trace: Familial hypercholesterolemia[original query] |
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| Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia. Atherosclerosis 2022 12 365 27-33. Tromp Tycho R, Ibrahim Shirin, Nurmohamed Nick S, Peter Jorge, Zuurbier Linda, Defesche Joep C, Reeskamp Laurens F, Hovingh G Kees, Stroes Erik S |
| A familial hypercholesterolemia registry as the main tool for adequate management of the disease. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2022 12 26 Suppl 1 73-80. Korneva Victoria Alekseevna, Kuznetsova Tatiana Yurievna, Julius Ulri |
| LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. Gene 2022 12 853 147084. Barbosa Thais Kristini Almendros, Hirata Rosario Dominguez Crespo, Ferreira Glaucio Monteiro, Borges Jéssica Bassani, Oliveira Victor Fernandes de, Gorjão Renata, Marçal Elisangela Rodrigues da Silva, Gonçalves Rodrigo Marques, Faludi André Arpad, Freitas Renata Caroline Costa de, Dagli-Hernandez Carolina, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Pithon-Curi Tania Cristina, Nader Helena Bonciani, Hirata Mario Hiroyu |
| Analysis of Clinical and Biochemical Characteristics of Patients With Genetically Confirmed Familial Hypercholesterolemia in Russian North Western District Residents. Kardiologiia 2022 12 62 (11): 33-39. Korneva V A, Zacharova F M, Mandelstam M Yu, Bogoslovskaya T Yu, Orlov A V, Vasilyev V B, Kuznetsova T |
| [Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1344-1348. Wang Kexin, Sun Tao, Zhang Xiaoping, Zhang Yahui, Gao Hai, Ren Yanlong, Li Xiaoy |
| Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis. JACC. Asia 2022 11 1 (1): 82-89. Cao Ye-Xuan, Sun Di, Liu Hui-Hui, Jin Jing-Lu, Li Sha, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Liu Geng, Dong Qian, Sun Jing, Chen Xie-Hui, Li Jian-J |
| Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia. iScience 2022 11 25 (11): 105334. Du Zhiyong, Li Fan, Li Linyi, Wang Yu, Li Jianping, Yang Ya, Jiang Long, Wang Luya, Qin Yanw |
| Early diagnosis and treatments in childhood are associated with better prognosis in patients with familial hypercholesterolemia. American journal of preventive cardiology 2022 11 12 100434. Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Takamura Masayuki, Kawashiri Masa-A |
| Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants. Frontiers in genetics 2022 11 13 956723. Martone Stefania, Buonagura Autilia Tommasina, Marra Roberta, Rosato Barbara Eleni, Del Giudice Federica, Bonfiglio Ferdinando, Capasso Mario, Iolascon Achille, Andolfo Immacolata, Russo Rober |
| Synergistic effect of lipoprotein (a) and C-reactive protein on prognosis of familial hypercholesterolemia. American journal of preventive cardiology 2022 11 12 100428. Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-A |
| An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention. HGG advances 2022 10 3 (4): 100118. Jørsboe Emil, Andersen Mette K, Skotte Line, Stæger Frederik F, Færgeman Nils J, Hanghøj Kristian, Santander Cindy G, Senftleber Ninna K, Diaz Lars J, Overvad Maria, Waples Ryan K, Geller Frank, Bjerregaard Peter, Melbye Mads, Larsen Christina V L, Feenstra Bjarke, Anders Koch , Jørgensen Marit E, Grarup Niels, Moltke Ida, Albrechtsen Anders, Hansen Torb |
| 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 |
| Impact of Healthy Lifestyle in Patients With Familial Hypercholesterolemia. JACC. Asia 2023 3 3 (1): 152-160. Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-A |
| Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 3 e003887. Chaudhry Ahsen, Trinder Mark, Vesely Kristin, Cermakova Lubomira, Jackson Linda, Wang Jian, Hegele Robert A, Brunham Liam |
| Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION. International journal of molecular sciences 2023 3 24 (5): . Nazarenko Maria S, Sleptcov Aleksei A, Zarubin Aleksei A, Salakhov Ramil R, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Zubkova Ekaterina S, Zheltysheva Nina V, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M, Zakharova Irina |
| Does low-density lipoprotein fully explain atherosclerotic risk in familial hypercholesterolemia? Current opinion in lipidology 2023 2 34 (2): 52-58. Clarke Shoa |
| Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia. Journal of clinical medicine 2023 2 12 (3): . Aparicio Andrea, Villazón Francisco, Suárez-Gutiérrez Lorena, Gómez Juan, Martínez-Faedo Ceferino, Méndez-Torre Edelmiro, Avanzas Pablo, Álvarez-Velasco Rut, Cuesta-Llavona Elías, García-Lago Claudia, Neuhalfen David, Coto Eliecer, Lorca Rebe |
| Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland. Polish archives of internal medicine 2023 1 . Toto?-?ura?ska Justyna, Wo?kow Pawe?, Kapusta Maria, Wójcik Ma?gorzata, Starzyk Jerzy, Kawalec Ewa, Idzior-Walu? Barbara, Walu?-Miarka Ma?gorza |
| Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events. Atherosclerosis plus 2023 1 49 42-46. Mango Gabriele, Osti Nicola, Udali Silvia, Vareschi Anna, Malerba Giovanni, Giorgetti Alejandro, Pizzolo Francesca, Friso Simonetta, Girelli Domenico, Olivieri Oliviero, Castagna Annalisa, Martinelli Nico |
| Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia. Atherosclerosis plus 2023 1 50 65-71. Borg Sanna Á, Sørensen Bork Christian, Skjelbo Nielsen Michael René, Jóanesarson Jan, Zaremba Tomas, Lolas Ihab Bishara Yousef, Lundbye-Christensen Søren, Søgaard Peter, Berg Schmidt Erik, Joensen Albert Mar |
| Cardiovascular disease onset in old people with severe hypercholesterolemia. Atherosclerosis 2023 1 365 9-14. Coutinho Elaine R, Miname Marcio H, Rocha Viviane Z, Bittencourt Marcio S, Jannes Cinthia E, Krieger Jose E, Pereira Alexandre C, Santos Raul |
| Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype. Clinical chemistry 2023 1 69 (2): 140-148. Bea Ana M, Cenarro Ana, Marco-Bened Victoria, Laclaustra Martn, Martn Csar, Ibarretxe Daiana, Pint Xavier, Arrobas Teresa, Vials Clara, Civeira Fernando, Olmos Salvad |
| Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease. Atherosclerosis plus 2023 1 48 1-7. Jokiniitty Antti, Eskola Markku, Saarela Tanja, Huhtala Heini, Metso Saa |
| Atherosclerosis severity in patients with familial hypercholesterolemia: The role of T and B lymphocytes. Atherosclerosis plus 2023 1 48 27-36. Fonzar Waleria T, Fonseca Francisco A, Fonseca Henrique A, Silva Tuany P, Rodrigues Alfredo A, Teixeira Daniela, Ishimura Mayari E, Coste Maria E, França Carolina N, Bianco Henrique T, Gidlund Magnus, Morais Rafael L, Bittencourt Clarissa A, Fonzar Carlos A, Sant'Anna Viviane A, Maugeri Ieda L, Pesquero Joao B, Izar Maria |
| Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort. Atherosclerosis plus 2023 1 49 47-55. Lima Isabella Ramos, Tada Mauricio Teruo, Oliveira Theo G M, Jannes Cinthia Elim, Bensenor Isabela, Lotufo Paulo A, Santos Raul D, Krieger Jose E, Pereira Alexandre |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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