Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: STX11[original query] |
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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 |
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood 2014 Aug 124 (8): 1331-4. Zhang Kejian, Chandrakasan Shanmuganathan, Chapman Heather, Valencia C Alexander, Husami Ammar, Kissell Diane, Johnson Judith A, Filipovich Alexandra |
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 |
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 |
Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi Arabia. Clinical medicine insights. Pediatrics 2016 10 21-6. Elyamany Ghaleb, Alzahrani Azzah, Elfaraidi Huda, Alsuhaibani Omar, Othman Nada, Al Mussaed Eman, Alabbas Fah |
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 |
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. International journal of laboratory hematology 2021 Aug . Xinh Phan Thi, Chuong Ho Quoc, Diem Truong Pham Hong, Nguyen Tuan Minh, Van Nguyen Dinh, Mai Anh Nguyen Hoang, Nghia Huynh, Vu Hoang A |
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis. Blood research 2021 Jun . Ahmari Ali Al, Alsmadi Osama, Sheereen Atia, Elamin Tanziel, Jabr Amal, El-Baik Lina, Alhissi Safa, Saud Bandar Al, Al-Awwami Moheeb, Fawaz Ibrahim Al, Ayas Mouhab, Siddiqui Khawar, Hawwari Abb |
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India. Frontiers in immunology 2021 3 12 612583. Shabrish Snehal, Kelkar Madhura, Yadav Reetika Malik, Bargir Umair Ahmed, Gupta Maya, Dalvi Aparna, Aluri Jahnavi, Kulkarni Manasi, Shinde Shweta, Sawant-Desai Sneha, Kambli Priyanka, Hule Gouri, Setia Priyanka, Jodhawat Neha, Gaikwad Pallavi, Dhawale Amruta, Nambiar Nayana, Gowri Vijaya, Pandrowala Ambreen, Taur Prasad, Raj Revathi, Uppuluri Ramya, Sharma Ratna, Kini Pranoti, Sivasankaran Meena, Munirathnam Deenadayalan, Vedam Ramprasad, Vignesh Pandiarajan, Banday Aaqib, Rawat Amit, Aggarwal Amita, Poddar Ujjal, Girish Meenakshi, Chaudhary Abhijit, Sampagar Abhilasha, Jayaraman Dharani, Chaudhary Narendra, Shah Nitin, Jijina Farah, Chandrakla S, Kanakia Swati, Arora Brijesh, Sen Santanu, Lokeshwar Madhukar, Desai Mukesh, Madkaikar Manis |
Role of Genetic Polymorphism Present in Macrophage Activation Syndrome Pathway in Post Mortem Biopsies of Patients with COVID-19. Viruses 2022 07 14 (8): . Zanchettin Aline Cristina, Barbosa Leonardo Vinicius, Dutra Anderson Azevedo, Prá Daniele Margarita Marani, Pereira Marcos Roberto Curcio, Stocco Rebecca Benicio, Martins Ana Paula Camargo, Vaz de Paula Caroline Busatta, Nagashima Seigo, de Noronha Lucia, Machado-Souza Cleb |
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis. Frontiers in pediatrics 2022 11 10 975665. Park Jong Eun, Lee Taeheon, Ha Kyeongsu, Cho Eun Hye, Ki Chang-Se |
Severe adult haemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants. The Journal of allergy and clinical immunology 2023 9 . Coralie Bloch, Jean Philippe Jais, Marine Gil, Marouane Boubaya, Yves Lepelletier, Brigitte Bader-Meunier, Nizar Mahlaoui, Nicolas Garcelon, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean-Marie Michot, Pierre Morel, Morgane Cheminant, Felipe Suarez, Louis Terriou, Geoffrey Urbanski, Jean-Francois Viallard, Alexandre Alcais, Alain Fischer, Geneviève de Saint Basile, Olivier Hermine, |
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- Page last updated:Apr 22, 2024
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