Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 69 Records) |
Query Trace: PRF1[original query] |
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Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient. Journal of clinical immunology 2020 9 41 (1): 217-220. Alsohime Fahad, Almaghamsi Talal, Basha Talal A, Alardati Hosam, Alghamdi Malak, Hawsawi Yousef Mohamm |
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 |
[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 |
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 |
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 |
Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing. International journal of molecular sciences 2021 6 22 (11): . Lin Ting-Yi, Chang Yun-Chia, Hsiao Yu-Jer, Chien Yueh, Jheng Ying-Chun, Wu Jing-Rong, Ching Lo-Jei, Hwang De-Kuang, Hsu Chih-Chien, Lin Tai-Chi, Chou Yu-Bai, Huang Yi-Ming, Chen Shih-Jen, Yang Yi-Ping, Tsai Ping-Hsi |
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 |
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. Multiple sclerosis (Houndmills, Basingstoke, England) 2021 2 27 (9): 1332-1340. Sidore Carlo, Orrù Valeria, Cocco Eleonora, Steri Maristella, Inshaw Jamie Rj, Pitzalis Maristella, Mulas Antonella, McGurnaghan Stuart, Frau Jessica, Porcu Eleonora, Busonero Fabio, Dei Mariano, Lai Sandra, Sole Gabriella, Virdis Francesca, Serra Valentina, Poddie Fausto, Delitala Alessandro, Marongiu Michele, Deidda Francesca, Pala Mauro, Floris Matteo, Masala Marco, Onengut-Gumuscu Suna, Robertson Catherine C, Leoni Lidia, Frongia Annapaola, Ricciardi Maria Rossella, Chessa Margherita, Olla Nazario, Lovicu Mario, Loizedda Annalisa, Maschio Andrea, Mereu Luisa, Ferrigno Paola, Curreli Nicolo, Balaci Lenuta, Loi Francesco, Ferreli Liana Ap, Pilia Maria Grazia, Pani Antonello, Marrosu Maria Giovanna, Abecasis Goncalo R, Rich Stephen S, Colhoun Helen, Todd John A, Schlessinger David, Fiorillo Edoardo, Cucca Francesco, Zoledziewska Magdale |
Alteration in the Immune Microenvironment Based on APC Status in MSS/pMMR Colon Cancer. Disease markers 2022 2022 3592990. Lin Haishan, Cao Bangw |
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 |
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. Journal of hematology & oncology 2022 7 15 (1): 101. Bi Xiaoman, Zhang Qing, Chen Lei, Liu Dan, Li Yueying, Zhao Xiaoxi, Zhang Ya, Zhang Liping, Liu Jingkun, Wu Chaoyi, Li Zhigang, Zhao Yunze, Ma Honghao, Huang Gang, Liu Xin, Wang Qian-Fei, Zhang R |
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy. The Journal of pediatrics 2022 7 250 67-74.e1. Hadži? Nedim, Molnar Emese, Height Sue, Kovács Gabor, Dhawan Anil, Andrikovics Hajnalka, Worth Austen, Gilmour Kimberly |
Impact of single nucleotide polymorphisms and cigarette smoking on cancer risk and survival of patients with head and neck squamous cell carcinoma. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2022 Jul 1-12. Andersson Bengt-Åke, Nilsson Mats, Oliva Del |
Hyperinflammatory Syndrome, Natural Killer Cell Function, and Genetic Polymorphisms in the Pathogenesis of Severe Dengue. The Journal of infectious diseases 2022 3 226 (8): 1338-1347. Vuong Nguyen Lam, Cheung Ka Wai, Periaswamy Balamurugan, Vi Tran Thuy, Duyen Huynh Thi Le, Leong Yan Shan, Binte Hamis Zayanah Noor, Gregorova Michaela, Ooi Eng Eong, Sessions October, Rivino Laura, Yacoub Soph |
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 |
Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing. Orphanet journal of rare diseases 2022 10 17 (1): 382. Lei Ting, Shen Mengjia, Deng Xu, Shi Yongqiang, Peng Yan, Wang Hui, Chen Tongbi |
Genetic Analysis for Type 1 Diabetes Genes in Juvenile Dermatomyositis Unveils Genetic Disease Overlap. Rheumatology (Oxford, England) 2022 Feb . Qu Hui-Qi, Qu Jingchun, Vaccaro Courtney, Chang Xiao, Mentch Frank, Li Jin, Mafra Fernanda, Nguyen Kenny, Gonzalez Michael, March Michael, Pellegrino Renata, Glessner Joseph, Sleiman Patrick, Kao Charlly, Hakonarson Hak |
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, |
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation. The American journal of the medical sciences 2023 7 . Xiangke Xin, Na Wang, Yicheng Zha |
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 |
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene. Annals of clinical biochemistry 2023 6 45632231186076. Paula Sienes Bailo, Nuria Goñi Ros, Bárbara Menéndez Jándula, Ramiro Álvarez Alegret, Eduardo González Gómez, Ricardo González Tarancón, Silvia Izquierdo Álvar |
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 |
Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study. Clinical and translational medicine 2023 5 13 (5): e1263. Qian Xiang, Zhe Wang, Guangyan Mu, Qiufen Xie, Zhiyan Liu, Shuang Zhou, Hanxu Zhang, Zining Wang, Jie Jiang, Kun Hu, Yatong Zhang, Zinan Zhao, Dongdong Yuan, Liping Guo, Tingting Wu, Jinhua Zhang, Na Wang, Jing Xiang, Zhichun Gu, Jianjun Sun, Yimin C |
Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing. Cancers 2023 2 15 (3): . Andrés-Zayas Cristina, Suárez-González Julia, Chicano-Lavilla María, Bastos Oreiro Mariana, Rodríguez-Macías Gabriela, Font López Patricia, Osorio Prendes Santiago, Oarbeascoa Royuela Gillen, García Ramírez Patricia, Nieves Salgado Rocío, Gómez-Centurión Ignacio, Carbonell Muñoz Diego, Muñiz Paula, Kwon Mi, Díez-Martín José Luis, Buño Ismael, Martínez-Laperche Caroli |
[Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province]. Zhongguo shi yan xue ye xue za zhi 2023 2 31 (1): 104-108. Wu Wei-Hao, Chen Cong-Jie, Yu Lian, Ma Xiao-Mei, Huang Jian-Qing, Chen Long-Ti |
Identification of molecular subtypes and a risk model based on inflammation-related genes in patients with low grade glioma. Heliyon 2023 12 9 (12): e22429. Cheng Long, Ya Song, Yimin Pan, Changwu |
Investigating genetic variants for treatment response to selective serotonin reuptake inhibitors in syndromal factors and side effects among patients with depression in Taiwanese Han population. The pharmacogenomics journal 2023 1 . Huang Shiau-Shian, Chen Yi-Ting, Su Mei-Hsin, Tsai Shih-Jen, Chen Hsi-Han, Yang Albert C, Liu Yu-Li, Kuo Po-Hs |
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 2024 4 15 (4): . Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, On Behalf Of The Rare Genomes Project Consortium, Társis Paiva Vieira, Carlos Eduardo Stein |
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- Page last updated:Jun 03, 2024
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