Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and 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 |
| 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 |
| 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 |
| 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 |
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