Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Disease and PRF1[original query] |
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| Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. The Journal of pediatrics 2006 Jul 149 (1): 134-7. Lee Susan Molleran, Sumegi Janos, Villanueva Joyce, Tabata Yasuhiro, Zhang Kejian, Chakraborty Ranajit, Sheng Xiaohua, Clementi Rita, de Saint Basile Genevieve, Filipovich Alexandra |
| A91V perforin variation in healthy subjects and FHLH patients. International journal of immunogenetics 2006 Apr 33 (2): 123-5. Busiello R, Fimiani G, Miano M G, Aricò M, Santoro A, Ursini M V, Pignata |
| 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 |
| Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis. Journal of immunology (Baltimore, Md. : 1950) 2010 Nov 185 (9): 5392-404. Camiña-Tato Montse, Morcillo-Suárez Carlos, Bustamante Marta F, Ortega Israel, Navarro Arcadi, Muntasell Aura, López-Botet Miguel, Sánchez Alex, Carmona Paco, Julià Eva, Tortola María Teresa, Audí Laura, Oksenberg Jorge R, Martin Roland, Montalban Xavier, Comabella Manu |
| The role of eight polymorphisms in three candidate genes in determining the susceptibility, phenotype, and response to anti-TNF therapy in patients with rheumatoid arthritis. Clinical and experimental rheumatology 0 30 (6): 939-42. Ceccarelli Fulvia, D'Alfonso Sandra, Perricone Carlo, Carlomagno Yari, Alessandri Cristiano, Croia Cristina, Barizzone Nadia, Montecucco Carlomaurizio, Galeazzi Mauro, Sebastiani Gian Domenico, Minisola Giovanni, Fiocco Ugo, Valesini Gui |
| Sex-specific differences in the relationship between genetic susceptibility, T cell DNA demethylation and lupus flare severity. Journal of autoimmunity 2012 Feb . Sawalha Amr H, Wang Lu, Nadig Ajay, Somers Emily C, McCune W Joseph, , Hughes Travis, Merrill Joan T, Scofield R Hal, Strickland Faith M, Richardson Bru |
| Analysis of the -398C/T polymorphism in the perforin gene in oncohematological patients. Revista brasileira de hematologia e hemoterapia 2012 10 33 (4): 274-6. Garcia Fernanda Bernadelli, Dos Reis Rafaella Kizzy Inácio, da Silva Lucas Emanuel Pinheiro, Moraes-Souza Hel |
| Human perforin mutations and susceptibility to multiple primary cancers. Oncoimmunology 2013 Apr 2 (4): e24185. Trapani Joseph A, Thia Kevin Y T, Andrews Miles, Davis Ian D, Gedye Craig, Parente Philip, Svobodova Suzanne, Chia Jenny, Browne Kylie, Campbell Ian G, Phillips Wayne A, Voskoboinik Ilia, Cebon Jonathan |
| Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy. Genes and immunity 0 16 (1): 99-102. Buttini S, Cappellano G, Ripellino P, Briani C, Cocito D, Osio M, Cantello R, Dianzani U, Comi |
| 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 |
| Human perforin gene variation is geographically distributed. Molecular genetics & genomic medicine 2017 12 6 (1): 44-55. Willenbring Robin C, Ikeda Yasuhiro, Pease Larry R, Johnson Aaron |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Genetic background of primary and familial HLH in Qatar: registry data and population study. Frontiers in pediatrics 2024 5 12 1326489. Elkhansa Elgaali, Massimo Mezzavilla, Ikhlak Ahmed, Mohammed Elanbari, Aesha Ali, Ghada Abdelaziz, Khalid A Fakhro, Ayman Saleh, Tawfeg Ben-Omran, Naima Almulla, Chiara Cug |
| 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 |
- Page last reviewed:Feb 1, 2024
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