Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 88 Records) |
Query Trace: LIPA[original query] |
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Unusual genetic variants associated with hypercholesterolemia in Argentina. Atherosclerosis 2018 10 277 256-261. Corral Pablo, Geller Andrew S, Polisecki Eliana Y, Lopez Graciela I, Bañares Virginia G, Cacciagiu Leonardo, Berg Gabriela, Hegele Robert A, Schaefer Ernst J, Schreier Laura |
Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia. The Canadian journal of cardiology 2018 10 34 (10): 1316-1324. Iacocca Michael A, Wang Jian, Sarkar Samantha, Dron Jacqueline S, Lagace Thomas, McIntyre Adam D, Lau Paulina, Robinson John F, Yang Ping, Knoll Joan H, Cao Henian, McPherson Ruth, Hegele Robert |
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. Journal of hepatology 2018 10 70 (1): 142-150. Carter Anna, Brackley Simon Mark, Gao Jiali, Mann Jake Pet |
The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia. Journal of clinical lipidology 2019 6 13 (4): 618-626. Sánchez-Hernández Rosa M, Tugores Antonio, Nóvoa Francisco J, Brito-Casillas Yeray, Expósito-Montesdeoca Ana B, Garay Paloma, Bea Ana M, Riaño Marta, Pocovi Miguel, Civeira Fernando, Wägner Ana M, Boronat Mau |
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency. Annals of hepatology 2019 6 18 (4): 646-650. Consuelo-Sánchez Alejandra, Vázquez-Frias Rodrigo, Reyes-De La Rosa Alejandra, Acosta-Rodríguez-Bueno Carlos P, Ortal-Vite María P, Cebolla Jorge |
Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study. Atherosclerosis 2019 4 285 49-54. Cebolla Jorge J, Irún Pilar, Mozas Pilar, Giraldo Pil |
Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. Atherosclerosis 2019 Nov 292 143-151. Lamiquiz-Moneo Itziar, Restrepo-Córdoba María Alejandra, Mateo-Gallego Rocío, Bea Ana María, Del Pino Alberiche-Ruano María, García-Pavía Pablo, Cenarro Ana, Martín Cesar, Civeira Fernando, Sánchez-Hernández Rosa Mar |
Prevalence, type distribution and risk factors for oral HPV in Danish renal transplant recipients. Oral diseases 2019 11 26 (2): 484-488. Faber Mette T, Kjaer Alexander K, Larsen Helle K, Thomsen Louise T, Haedersdal Merete, Bonde Jesper, Hansen Jesper M, Sørensen Søren S, Kjaer Susanne |
Diverse human leukocyte antigen association of type 1 diabetes in north India. Journal of diabetes 2019 1 11 (9): 719-728. Kumar Neeraj, Mehra Narinder K, Kanga Uma, Kaur Gurvinder, Tandon Nikhil, Chuzho Neihenuo, Mishra Gunja, Neolia Shekhar |
Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina. Archivos de cardiologia de Mexico 2020 9 90 (2): 130-136. Corral Pablo, Bañares Virginia, Sáenz Benjamín, Zago Valeria, Sarobe Agustina, López Graciela, Berg Gabriela, Schreier Lau |
Association of viral load and physical status of HPV-16 with survival of patients with head and neck cancer. Ecancermedicalscience 2020 9 14 1082. Veitía Dayahindara, Liuzzi Juan, Ávila Maira, Rodriguez Idamelys, Toro Felix, Correnti Mar |
Next-generation sequencing to confirm clinical familial hypercholesterolemia. European journal of preventive cardiology 2020 Jul 2047487320942996. Reeskamp Laurens F, Tromp Tycho R, Defesche Joep C, Grefhorst Aldo, Stroes Erik Sg, Hovingh G Kees, Zuurbier Lin |
Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina. Archivos de cardiologia de Mexico 2020 5 90 (2): 151-157. Corral Pablo, Bañares Virginia, Sáenz Benjamín, Zago Valeria, Sarobe Agustina, López Graciela, Berg Gabriela, Schreier Lau |
Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil. Molecular biology reports 2020 11 47 (12): 9279-9288. de Paiva Silvino Júnea Paolucci, Jannes Cinthia Elim, Tada Mauricio Teruo, Lima Isabella Ramos, Silva Iêda de Fátima Oliveira, Pereira Alexandre Costa, Gomes Karina Bra |
Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection.
BMC medical genetics 2020 11 21 (1): 231. Adebamowo Sally N, Adeyemo Adebowale A, Rotimi Charles N, Olaniyan Olayinka, Offiong Richard, Adebamowo Clement A, |
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes. Clinical genetics 2020 1 97 (3): 457-466. Mariano Cibelle, Alves Ana Catarina, Medeiros Ana Margarida, Chora Joana Rita, Antunes Marília, Futema Marta, Humphries Steve E, Bourbon Mafal |
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study. Pharmacology research & perspectives 2021 9 9 (5): e00820. Pasta Andrea, Borro Paolo, Cremonini Anna Laura, Formisano Elena, Tozzi Giulia, Cecchi Stefano, Fresa Raffaele, Labanca Sara, Djahandideh Afscin, Sukkar Samir Giuseppe, Picciotto Antonino, Pisciotta Liv |
Next-generation sequencing to confirm clinical familial hypercholesterolemia. European journal of preventive cardiology 2021 7 28 (8): 875-883. Reeskamp Laurens F, Tromp Tycho R, Defesche Joep C, Grefhorst Aldo, Stroes Erik S G, Hovingh G Kees, Zuurbier Lin |
Cholesterol-related gene variants are associated with diabetes in coronary artery disease patients. Molecular biology reports 2021 May . Ozuynuk Aybike Sena, Erkan Aycan Fahri, Ekici Berkay, Erginel-Unaltuna Nihan, Coban Neslih |
Lysosomal acid lipase gene single nucleotide polymorphism and pulmonary tuberculosis susceptibility. The Indian journal of tuberculosis 2021 Apr 68 (2): 179-185. Kabuye Deo, Ndibalema Angelamelli |
Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study. Frontiers in genetics 2022 9 13 971651. Arrobas Velilla Teresa, Brea Ángel, Valdivielso Ped |
[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents]. Revista medica de Chile 2022 3 149 (9): 1267-1274. Sánchez Andrea, Bustos Paulina, Honorato Paula, Sáez Katia, Elim-Jannes Cinthia, Barriga Natalia, Ibieta Guillermo, Pérez Luis, Alonso Rodrigo, Radojkovic Claudia, Asenjo Sylv |
Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells. Journal of periodontal research 2022 12 58 (1): 175-183. Matsumoto Masahiro, Fujihara Chiharu, Nantakeeratipat Teerachate, Kitagaki Jirouta, Yamamoto Yu, Yamada Satoru, Kitamura Masahiro, Murakami Shin |
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 |
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 |
Detection of variable genotypes in common HPV-associated invasive penile squamous cell carcinomas. A study of 177 HPV positive cases. Human pathology 2023 7 . Diego F Sanchez, María José Fernández-Nestosa, Laia Alemany, Sofía Cañete-Portillo, Belén Lloveras, Omar Clavero, Ingrid Rodríguez, Wim Quint, Nubia Muñoz, Silvia de Sanjosé, Francisco Xavier Bosch, Antonio Cubilla, |
Association of Functional Polymorphism in TPH2 Gene with Alcohol Dependence and Personality Traits: Study in Cloninger's Type I and Type II Alcohol-Dependent Inpatients. Genes 2023 2 14 (2): . Konjevod Marcela, Rešetar Mirta, Matoši? Ana, ?i?in-Šain Lipa, Štefulj Jasmin |
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 |
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, |
Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles. Genetic testing and molecular biomarkers 2023 10 27 (10): 319-324. Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St Denis, Tigran Barseghyan, Pamela Herrera, Sajo Begaj, Marvin Pietruszka, Yadira Valles-Ayo |
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- Page last updated:Apr 22, 2024
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