Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: SH2D1A[original query] |
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SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. Blood 2001 Aug 98 (4): 1268-70. Sumazaki R, Kanegane H, Osaki M, Fukushima T, Tsuchida M, Matsukura H, Shinozaki K, Kimura H, Matsui A, Miyawaki T |
Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency. International archives of allergy and immunology 2008 147 (2): 147-51. Salzer Ulrich, Hagena Tina, Webster David B, Grimbacher Bo |
Association of LY9 in UK and Canadian SLE families. Genes and immunity 2008 Mar 9 (2): 93-102. Cunninghame Graham D S, Vyse T J, Fortin P R, Montpetit A, Cai Y-c, Lim S, McKenzie T, Farwell L, Rhodes B, Chad L, Hudson T J, Sharpe A, Terhorst C, Greenwood C M T, Wither J, Rioux J D, |
The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. Human immunology 2012 May 73 (5): 585-92. Boggio Elena, Melensi Matteo, Bocca Sara, Chiocchetti Annalisa, Comi Cristoforo, Clemente Nausicaa, Orilieri Elisabetta, Soluri Maria Felicia, D'Alfonso Sandra, Mechelli Rosella, Gentile Giovanna, Poggi Alessandro, Salvetti Marco, Ramenghi Ugo, Dianzani Umber |
Association of a single nucleotide polymorphism in the SH2D1A intronic region with systemic lupus erythematosus. Lupus 2013 Apr 22 (5): 497-503. Furukawa H, Kawasaki A, Oka S, Shimada K, Matsui T, Ikenaka T, Hashimoto A, Okazaki Y, Takaoka H, Futami H, Komiya A, Kondo Y, Ito S, Hayashi T, Matsumoto I, Kusaoi M, Takasaki Y, Nagai T, Hirohata S, Setoguchi K, Suda A, Nagaoka S, Kono H, Okamoto A, Chiba N, Suematsu E, Fukui N, Hashimoto H, Sumida T, Ono M, Tsuchiya N, Tohma |
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma. Journal of pediatric hematology/oncology 2014 Aug 36 (6): e359-65. Ciambotti Benedetta, Mussolin Lara, d'Amore Emanuele S G, Pillon Marta, Sieni Elena, Coniglio Maria L, Ros Martina D, Cetica Valentina, Aricò Maurizio, Rosolen Ange |
Epstein-Barr virus candidate genes and multiple sclerosis. Multiple sclerosis and related disorders 2015 Jan 4 (1): 60-4. Claire Simon Kelly, Schmidt Hollie, Loud Sara, Ascherio Alber |
Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis. Italian journal of pediatrics 2016 42 (1): 50. Chen Yuanyuan, Wang Zhujun, Luo Zebin, Zhao Ning, Yang Shilong, Tang Yongm |
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. International journal of hematology 2017 Mar . Mukda Ekchol, Trachoo Objoon, Pasomsub Ekawat, Tiyasirichokchai Rawiphorn, Iemwimangsa Nareenart, Sosothikul Darintr, Chantratita Wasun, Pakakasama Sama |
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma. Oncology letters 2017 Nov 14 (5): 5249-5256. Chen Xue, Zhang Yang, Wang Fang, Wang Mangju, Teng Wen, Lin Yuehui, Han Xiangping, Jin Fangyuan, Xu Yuanli, Cao Panxiang, Fang Jiancheng, Zhu Ping, Tong Chunrong, Liu Hongxi |
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. Clinical genetics 2018 Apr . Chen X, Wang F, Zhang Y, Teng W, Wang M, Nie D, Zhou X, Wang D, Zhao H, Zhu P, Liu |
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood advances 2020 Jun 4 (12): 2578-2594. Gadoury-Levesque Vanessa, Dong Lei, Su Rui, Chen Jianjun, Zhang Kejian, Risma Kimberly A, Marsh Rebecca A, Sun Mi |
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications 2020 Feb 11 (1): 995. Serra Eva Gonçalves, Schwerd Tobias, Moutsianas Loukas, Cavounidis Athena, Fachal Laura, Pandey Sumeet, Kammermeier Jochen, Croft Nicholas M, Posovszky Carsten, Rodrigues Astor, Russell Richard K, Barakat Farah, Auth Marcus K H, Heuschkel Robert, Zilbauer Matthias, Fyderek Krzysztof, Braegger Christian, Travis Simon P, Satsangi Jack, Parkes Miles, Thapar Nikhil, Ferry Helen, Matte Julie C, Gilmour Kimberly C, Wedrychowicz Andrzej, Sullivan Peter, Moore Carmel, Sambrook Jennifer, Ouwehand Willem, Roberts David, Danesh John, Baeumler Toni A, Fulga Tudor A, Carrami Eli M, Ahmed Ahmed, Wilson Rachel, Barrett Jeffrey C, Elkadri Abdul, Griffiths Anne M, , , , , , , Snapper Scott B, Shah Neil, Muise Aleixo M, Wilson David C, Uhlig Holm H, Anderson Carl |
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing. Frontiers in immunology 2023 6 14 1178582. Soon Sung Kwon, Youn Keong Cho, Seungmin Hahn, Jiyoung Oh, Dongju Won, Saeam Shin, Ji-Man Kang, Jong Gyun Ahn, Seung-Tae Lee, Jong Rak Ch |
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