Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: UNC13D[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 |
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. Journal of medical genetics 2011 1 48 (5): 343-52. Sieni Elena, Cetica Valentina, Santoro Alessandra, Beutel Karin, Mastrodicasa Elena, Meeths Marie, Ciambotti Benedetta, Brugnolo Francesca, zur Stadt Udo, Pende Daniela, Moretta Lorenzo, Griffiths Gillian M, Henter Jan-Inge, Janka Gritta, Aricò Mauriz |
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 |
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 |
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 |
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 |
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 |
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 |
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study. Annals of hematology 2019 8 98 (10): 2303-2310. Zhang Liping, Li Zhigang, Liu Wei, Ma Honghao, Wang Tianyou, Zhang R |
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis. Frontiers in immunology 2019 3 10 395. Miao Yi, Zhu Hua-Yuan, Qiao Chun, Xia Yi, Kong Yiling, Zou Yi-Xin, Miao Yu-Qing, Chen Xiao, Cao Lei, Wu Wei, Liang Jin-Hua, Wu Jia-Zhu, Wang Li, Fan Lei, Xu Wei, Li Jian-Yo |
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 |
Randomized phase II clinical trial and biomarker analysis of paclitaxel plus epirubicin versus vinorelbine plus epirubicin as neoadjuvant chemotherapy in locally advanced HER2-negative breast cancer with TEKT4 variations. Breast cancer research and treatment 2020 9 185 (2): 371-380. Jiang Yi-Zhou, Ge Li-Ping, Jin Xi, Fan Lei, He Min, Liu Yin, Chen Li, Zuo Wen-Jia, Wu Jiong, Liu Guang-Yu, Di Gen-Hong, Wang Zhong-Hua, Yu Ke-Da, Shao Zhi-Mi |
[A genetic analysis of children with Epstein-Barr virus-positive hemophagocytic lymphohistiocytosis and its association with T-helper type 1/T-helper type 2 cytokines]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2020 6 22 (6): 620-625. Zhang Yao, Tang Yong-M |
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 |
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing. European journal of medical genetics 2020 3 63 (5): 103920. Batlle-Masó Laura, Mensa-Vilaró Anna, Solís-Moruno Manuel, Marquès-Bonet Tomàs, Arostegui Juan I, Casals Ferr |
Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations. Blood advances 2021 Sep . Koh Jiwon, Jang Insoon, Mun Seungchan, Lee Cheol, Cha Hee Jeong, Oh Young Ha, Kim Jin-Man, Han Jae Ho, Paik Jin Ho, Cho Junhun, Ko Young Hyeh, Park Chan-Sik, Go Heounjeong, Huh Jooryung, Kim Kwangsoo, Jeon Yoon Kyu |
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 |
[Association between genotype and clinical phenotype in children with primary hemophagocytic lymphohistiocytosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 8 59 (8): 672-677. Zhang L P, Ma H H, Wei A, Zhang R, Li Z G, Wang T |
Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients. Current medical science 2021 6 41 (3): 482-490. Guan Yu-Qi, Shen Ke-Feng, Yang Li, Cai Hao-Dong, Zhang Mei-Lan, Wang Jia-Chen, Long Xiao-Lu, Xiong Jie, Gu Jia, Zhang Pei-Ling, Xiao Min, Zhang Wei, Zhou Jian-Fe |
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome. Neurology(R) neuroimmunology & neuroinflammation 2021 05 8 (3): . Taieb Guillaume, Kaphan Elsa, Duflos Claire, Lebrun-Frénay Christine, Rigau Valérie, Thouvenot Eric, Duhin-Gand Emeline, Lefaucheur Romain, Hoang-Xuan Khe, Coulette Sarah, Ouallet Jean Christophe, Menjot de Champfleur Nicolas, Tranchant Christine, Picard Capucine, Fusaro Mathieu, Sepulveda Fernando E, Labauge Pierre, de Saint Basile Geneviè |
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 |
COVID-19 Induced Hemophagocytic Lymphohistiocytosis in a Patient with Novel Homozygous UNC13D Gene Variant. Klinische Padiatrie 2023 7 235 (4): 258-260. Seher Tekeli, Baran Erman, Burcak Kurucu, Gonul Tanir, Caner Aytek |
Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
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 |
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals? Asian Pacific journal of allergy and immunology 2023 1 40 (4): 422-434. Zhou Zijun, M A Swagemakers Sigrid, S Lourens Mirthe, Suratannon Narissara, J van der Spek Peter, A S H Dalm Virgil, A Dik Willem, IJspeert Hanna, van Hagen P Mart |
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- Page last updated:Apr 29, 2024
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