Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Cryopyrin-associated Periodic Syndrome[original query] |
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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, |
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis research & therapy 2013 15 (1): R30. Rowczenio Dorota M, Trojer Hadija, Russell Tonia, Baginska Anna, Lane Thirusha, Stewart Nicola M, Gillmore Julian D, Hawkins Philip N, Woo Patricia, Mikoluc Bozena, Lachmann Helen |
Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Annals of the rheumatic diseases 2014 Jul . Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann H J, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf S M, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M, |
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. The Journal of rheumatology 2016 May . Sobolewska Bianka, Angermair Eva, Deuter Christoph, Doycheva Deshka, Kuemmerle-Deschner Jasmin, Zierhut Manfr |
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS). Science China. Life sciences 2017 12 60 (12): 1436-1444. Li Caifeng, Tan Xiaohua, Zhang Junmei, Li Shipeng, Mo Wenxiu, Han Tongxin, Kuang Weiying, Zhou Yifang, Deng Jiangho |
An Adult Patient With a Novel Mutation in NLRP3 Gene Associated With Cryopyrin-Associated Periodic Syndrome Mimicking Adult-Onset Still Disease. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2017 12 24 (3): 158-159. Ocampo Vanessa, Ortiz-Sierra Maria-Clara, Echeverri Andrés F, Posso-Osorio Iván, Suso Juan-Pablo, Tobón Gabriel |
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients. Seminars in arthritis and rheumatism 2019 Aug . Sag Erdal, Demirel Dilara, Demir Selcan, Atalay Erdal, Akca Ummusen, Bilginer Yelda, Ozen Se |
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 |
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype. The Journal of allergy and clinical immunology 2023 7 . Antoine Fayand, Margaux Cescato, Laurent Le Corre, Alexandre Terré, Margaux Wacheux, Yixiang Yj Zhu, Armelle Melet, Thomas Rj Moreau, Bahram Bodaghi, Fabrice Bonnet, Didier Bronnimann, Laurence Cuisset, Raquel Faria, Gilles Grateau, Pascal Pillet, Catharina M Mulders-Manders, Benedicte Neven, Pierre Quartier, Olivier Richer, Léa Savey, Marie-Elise Truchetet, Bénédicte F Py, Guilaine Boursier, Jean-Philippe Herbeuval, Sophie Georgin-Lavialle, Mathieu P Rode |
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Frontiers in immunology 2023 10 14 1267933. Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei M |
Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome. European journal of neurology 2024 4 e16301. E Mulazzani, L Böhm, T Christmann, M Krumbholz, T Kümpfel, J Hav |
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