Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Cryopyrin-Associated Periodic Syndromes and NLRP3[original query] |
---|
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the rheumatic diseases 2011 Mar 70 (3): 495-9. Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I, |
A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. Clinical immunology (Orlando, Fla.) 2015 Mar 157 (1): 56-64. Rieber Nikolaus, Gavrilov Alina, Hofer Laura, Singh Anurag, Öz Hasan, Endres Theresa, Schäfer Iris, Handgretinger Rupert, Hartl Dominik, Kuemmerle-Deschner Jasm |
A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls. Clinical and experimental rheumatology 2017 Oct . Lidar Merav, Brantz Yael, Shinar Yael, Reznik-Wolf Haike, Livneh Avi, Ben Zvi Ilan, Cohen Rinat, Berkun Yaakov, Hashkes Philip J, Peleg Hagit, Kessel Aharon, Slobodin Gleb, Rozenbaum Michael, Goldzweig Ofra, Pras El |
Confounding role of tumor necrosis factor in cryopyrin-associated periodic syndromes. The Journal of clinical investigation 2017 11 127 (12): 4235-4237. Banoth Balaji, Sutterwala Fayyaz |
Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome. Arthritis & rheumatology (Hoboken, N.J.) 2019 7 71 (12): 2121-2125. Pathak Shelly, Rowczenio Dorota M, Owen Roger G, Doody Gina M, Newton Darren J, Taylor Claire, Taylor Jan, Cargo Catherine, Hawkins Philip N, Krause Karoline, Lachmann Helen J, Savic Sini |
Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatology international 2020 8 41 (1): 219-225. Paim-Marques Luciana B, Cavalcante Amanda, Castro Catherine, Muskardin Theresa L Wampler, de Oliveira João Bosco, Niewold Timothy B, Appenzeller Simo |
Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA. The Turkish journal of pediatrics 2023 9 65 (4): 650-660. Yasemin Kendir-Demirkol, Laura A Jenny, Ferhat Demir, Betül Söze |
The Role of Hemophilus influenzae Infection and Its Relationship With Colorectal Cancer. World journal of oncology 2023 6 14 (3): 188-194. Marla C Fortoul, Enoch Kim, Amalia D Ardeljan, Lexi Frankel, Kazuaki Takabe, Omar M Rash |
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn. Frontiers in immunology 2023 10 14 1238551. Mingyu Xie, Jingjing Wan, Xin Zheng, Xian Zou, Wanting Chen, Kanglin Zhang, Huiting Yuan, Zhenhong Zhang, Haisheng Ze |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: