Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Hypercholesterolemia and LIPA[original query] |
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Apolipoprotein E genotypes as predictors of high-risk groups for developing hyperlipidemia in kidney transplant recipients undergoing sirolimus treatment. Transplantation 2005 Dec 80 (12): 1705-11. Maluf Daniel G, Mas Valeria R, Archer Kellie J, Yanek Kenneth, King Anne, Ferreira-Gonzalez Andrea, Fisher Robert A, Posner Ma |
Single nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease. a replication in the genetic of atherosclerotic disease (GEA) Mexican study. PloS one 2013 8 (9): e74703. Vargas-Alarcón Gilberto, Posadas-Romero Carlos, Villarreal-Molina Teresa, Alvarez-León Edith, Angeles Javier, Vallejo Maite, Posadas-Sánchez Rosalinda, Cardoso Guillermo, Medina-Urrutia Aida, Kimura-Hayama Er |
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2016 08 251 263-265. Sjouke Barbara, Defesche Joep C, de Randamie Janine S E, Wiegman Albert, Fouchier Sigrid W, Hovingh G Ke |
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. Journal of the American College of Cardiology 2017 Oct 70 (14): 1732-1740. Amor-Salamanca Almudena, Castillo Sergio, Gonzalez-Vioque Emiliano, Dominguez Fernando, Quintana Lucía, Lluís-Ganella Carla, Escudier Juan Manuel, Ortega Javier, Lara-Pezzi Enrique, Alonso-Pulpon Luis, Garcia-Pavia Pab |
Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia. Arquivos brasileiros de cardiologia 2018 Feb 110 (2): 119-123. Lorenzo Andrea De, Silva Juliana Duarte Lopes da, James Cinthia E, Pereira Alexandre C, Moreira Annie Seixas Bel |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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, |
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- Page last updated:Apr 22, 2024
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