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Records 1-14

Query Trace: UNC13D[original query]

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 Similar articles in PubMed
A study combining whole-exome sequencing and structural neuroimaging analysis for major depressive disorder. Journal of affective disorders 2019 Oct 262 31-39. Han Kyu-Man, Han Mi-Ryung, Kim Aram, Kang Wooyoung, Kang Youbin, Kang June, Tae Woo-Suk, Cho Yunjung, Ham Byung-J Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. Clinical genetics 2015 Oct . Seo Ja Young, Lee Ki-O, Yoo Keon-Hee, Sung Ki-Woong, Koo Hong Hoe, Kim Sun-Hee, Kang Hyoung Jin, Park Kyung-Duk, Shin Hee Young, Baek Hee-Jo, Kook Hoon, Lyu Chuhl Joo, Song Joon-Sup, Lee Mee Jeong, Kim Ji-Yoon, Lim Young-Tak, Koh Kyung-Nam, Im Ho Joon, Seo Jong Jin, Kim Hee-J Similar articles in PubMed
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 May 135 (5): 1310-8.e1. Cetica Valentina, Hackmann Yvonne, Grieve Samantha, Sieni Elena, Ciambotti Benedetta, Coniglio Maria Luisa, Pende Daniela, Gilmour Kimberly, Romagnoli Paolo, Griffiths Gillian M, Aricò Mauriz Similar articles in PubMed
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 Similar articles in PubMed
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric blood & cancer 2014 Jun 61 (6): 1034-40. Qian Yaping, Johnson Judith A, Connor Jessica A, Valencia C Alexander, Barasa Nathaniel, Schubert Jeffery, Husami Ammar, Kissell Diane, Zhang Ge, Weirauch Matthew T, Filipovich Alexandra H, Zhang Keji Similar articles in PubMed
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PloS one 2013 8 (7): e68045. Aricò Maurizio, Boggio Elena, Cetica Valentina, Melensi Matteo, Orilieri Elisabetta, Clemente Nausicaa, Cappellano Giuseppe, Buttini Sara, Soluri Maria Felicia, Comi Cristoforo, Dufour Carlo, Pende Daniela, Dianzani Irma, Ellis Steven R, Pagliano Sara, Marcenaro Stefania, Ramenghi Ugo, Chiocchetti Annalisa, Dianzani Umber Similar articles in PubMed
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. British journal of haematology 2008 Oct 143 (1): 75-83. Horne AnnaCarin, Ramme Kim Göransdotter, Rudd Eva, Zheng Chengyun, Wali Yasser, al-Lamki Zakia, Gürgey Aytemiz, Yalman Nevin, Nordenskjöld Magnus, Henter Jan-In Similar articles in PubMed
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis and rheumatism 2008 Mar 58 (3): 869-74. Donn Rachelle, Ellison Stuart, Lamb Rebecca, Day Thomas, Baildam Eileen, Ramanan Athimalaipet Similar articles in PubMed

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