Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 45 Records) |
| Query Trace: Disease and LIPA[original query] |
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| Large-scale gene-centric analysis identifies novel variants for coronary artery disease. PLoS genetics 2011 Sep 7 (9): e1002260. Authors are not available |
| Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients. Obesity (Silver Spring, Md.) 2012 Oct 20 (10): 2075-82. Guénard Frédéric, Houde Alain, Bouchard Luigi, Tchernof André, Deshaies Yves, Biron Simon, Lescelleur Odette, Biertho Laurent, Marceau Simon, Pérusse Louis, Vohl Marie-Clau |
| Mannose-binding lectin genotype and serum levels in patients with chronic and allergic pulmonary aspergillosis. International journal of immunogenetics 2012 Jun 39 (3): 224-32. Harrison E, Singh A, Morris J, Smith N L, Fraczek M G, Moore C B, Denning D |
| 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 |
| Positive correlation between variants of lipid metabolism-related genes and coronary heart disease. Molecular medicine reports 2013 Jul 8 (1): 260-6. Zhang Li-Na, Liu Pan-Pan, Zhou Jianqing, Huang R Stephanie, Yuan Fang, Fei Li-Juan, Huang Yi, Xu Limin, Hao Ling-Mei, Qiu Xu-Jun, Le Yanping, Yang Xi, Xu Weifeng, Huang Xiaoyan, Ye Meng, Lian Jiangfang, Duan Shiw |
| Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. Journal of hepatology 2013 Feb . Bernstein DL, Hülkova H, Bialer MG, Desnick RJ |
| Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology (Baltimore, Md.) 2013 Sep 58 (3): 958-65. Scott Stuart A, Liu Benny, Nazarenko Irina, Martis Suparna, Kozlitina Julia, Yang Yao, Ramirez Charina, Kasai Yumi, Hyatt Tommy, Peter Inga, Desnick Robert |
| [High frequency of DQ8 in the celiac population of Chaco province, Argentina]. Acta gastroenterologica Latinoamericana 2014 Mar 44 (1): 16-21. Motta Patricía Maria F, López María A, Marinic Karina, Picón Santiago O, Stafuza Mariana G, Habegger de Sorrentino Alic |
| Genetic variants associated with myocardial infarction and the risk factors in Chinese population. PloS one 2014 9 (1): e86332. Wang Yongqin, Wang Lefeng, Liu Xin, Zhang Yongzhi, Yu Liping, Zhang Fan, Liu Lisheng, Cai Jun, Yang Xinchun, Wang Xing |
| Negative association of the HLA-DQB1*02 allele with breast cancer development among Jordanians. Asian Pacific journal of cancer prevention : APJCP 2013 14 (11): 7007-10. Atoum Manar Fayiz, Tanashat Reem Qasem, Mahmoud Sameer Al H |
| HPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP53. British journal of cancer 2015 Apr 112 (8): 1358-66. Meulendijks D, Tomasoa N B, Dewit L, Smits P H M, Bakker R, van Velthuysen M-L F, Rosenberg E H, Beijnen J H, Schellens J H M, Cats |
| 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 |
| An Association Study Identifies Two Single Nucleotide Polymorphisms on Chromosome 11q23.3 as a Risk Locus for Acute Myocardial Infarction in the Chinese Han Population. Clinical laboratory 2015 61 (11): 1609-16. Shen Botao, Zhao Wei, Zheng Yang, Chen Xiaohui, Xu Weihong, Li Shi |
| Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia. Annals of clinical biochemistry 2018 Jan 4563218793165. Ashfield-Watt Pauline, Haralambos Kate, Edwards Rhiannon, Townsend Delyth, Gingell Rob, Wa Li Kah, Humphries Steve E, McDowell I |
| [Clinical features and prognostic factors of squamous cell carcinoma of the base of tongue?an analysis of 124 cases]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 5 31 (24): 1867-1872. Zhang Y X, Liu M B, Huang H, Chen W, Zhang |
| 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 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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