Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Disease and MVK[original query] |
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| Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. European journal of human genetics : EJHG 2003 Feb 11 (2): 196-200. Houten Sander M, van Woerden Christiaan S, Wijburg Frits A, Wanders Ronald J A, Waterham Hans |
| Autoinflammatory gene mutations in Behçet's disease. Annals of the rheumatic diseases 2007 Jun 66 (6): 832-4. Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou |
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Nature genetics 2008 Feb 40 (2): 161-9. Willer Cristen J, Sanna Serena, Jackson Anne U, Scuteri Angelo, Bonnycastle Lori L, Clarke Robert, Heath Simon C, Timpson Nicholas J, Najjar Samer S, Stringham Heather M, Strait James, Duren William L, Maschio Andrea, Busonero Fabio, Mulas Antonella, Albai Giuseppe, Swift Amy J, Morken Mario A, Narisu Narisu, Bennett Derrick, Parish Sarah, Shen Haiqing, Galan Pilar, Meneton Pierre, Hercberg Serge, Zelenika Diana, Chen Wei-Min, Li Yun, Scott Laura J, Scheet Paul A, Sundvall Jouko, Watanabe Richard M, Nagaraja Ramaiah, Ebrahim Shah, Lawlor Debbie A, Ben-Shlomo Yoav, Davey-Smith George, Shuldiner Alan R, Collins Rory, Bergman Richard N, Uda Manuela, Tuomilehto Jaakko, Cao Antonio, Collins Francis S, Lakatta Edward, Lathrop G Mark, Boehnke Michael, Schlessinger David, Mohlke Karen L, Abecasis Gonçalo |
| Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese population. Chinese medical journal 2012 Mar 125 (5): 801-6. Liu Si-jun, Zhi Hong, Chen Pei-zhan, Chen Wei, Lu Feng, Ma Gen-shan, Dai Jun-cheng, Shen Chong, Liu Nai-feng, Hu Zhi-bin, Wang Hui, Shen Hong-bi |
| Putative modifier genes in mevalonate kinase deficiency. Molecular medicine reports 2016 Feb . Marcuzzi Annalisa, Vozzi Diego, Girardelli Martina, Tricarico Paola Maura, Knowles Alessandra, Crovella Sergio, Vuch Josef, Tommasini Alberto, Piscianz Elisa, Bianco Anna Moni |
| Evidence of digenic inheritance in autoinflammation-associated genes. Journal of genetics 2016 Dec 95 (4): 761-766. Neocleous Vassos, Byrou Stefania, Toumba Meropi, Costi Constantina, Shammas Christos, Kyriakou Christina, Christophidou-Anastasiadou Violetta, Tanteles George A, Hadjipanayis Adamos, Phylactou Leonidas |
| Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population. Lipids in health and disease 2016 Oct 15 (1): 171. Sun Jie, Qian Yun, Jiang Yue, Chen Jiaping, Dai Juncheng, Jin Guangfu, Wang Jianming, Hu Zhibin, Liu Sijun, Shen Chong, Shen Hongbi |
| Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. Scientific reports 2017 8 7 (1): 8453. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Ortiz-Fernández Lourdes, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Rosa Juliá María, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez De la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
| MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency. Rheumatology international 2017 12 38 (1): 121-127. Mezzavilla Massimo, Moura Ronald Rodrigues, Celsi Fulvio, Tricarico Paola Maura, Crovella Serg |
| Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. Rheumatology international 2017 Nov . Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier |
| Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clinical and experimental rheumatology 2017 11 35 Suppl 108 (6): 75-81. Karacan ?lker, U?urlu Serdal, Tolun Asl?han, Tahir Turanl? Eda, Ozdogan Hu |
| The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. Oncotarget 2017 Sep 8 (42): 72801-72817. Miao Liu, Yin Rui-Xing, Huang Feng, Chen Wu-Xian, Cao Xiao-Li, Wu Jin-Zh |
| Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study. Bioscience trends 2018 Aug . Wang Duo-Shun, Yin Rui-Xing, Li Kai-Guang, Lu Li, Su Yuan, Yan Rong-Q |
| Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. The Journal of dermatology 2018 May . Leng Yunji, Yan Lulu, Feng Hongquan, Chen Chen, Wang Shusen, Luo Yang, Cao Lih |
| Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.
Journal of the American Heart Association 2018 Oct 7 (19): e03488. Tuteja Sony, Qu Liming, Vujkovic Marijana, Dunbar Richard L, Chen Jinbo, DerOhannessian Stephanie, Rader Daniel |
| Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. Scientific reports 2019 2 9 (1): 2777. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Olivas-Martínez Israel, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Juliá María Rosa, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez de la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
| Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
| A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants. Skin health and disease 2022 Mar 2 (1): e82. Tao L, Huang Y K, Yan K X, Li C H, Shen L, Zhang Z |
| Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center. Journal of the American Heart Association 2022 6 11 (11): e024931. Peet Claire J, Rowczenio Dorota, Omoyinmi Ebun, Papadopoulou Charalampia, Mapalo Bella Ruth R, Wood Michael R, Capon Francesca, Lachmann Helen |
| Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Archives of rheumatology 2023 9 38 (2): 299-306. Rabia Miray K??la Ekinci, Özlem Anla?, Özge Öza |
| Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of rheumatology 2023 9 38 (2): 238-248. Fatih Y?ld?z, Suzan Dinkçi, Eren Erk |
| Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
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