Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 851 Records) |
Query Trace: Q Fever[original query] |
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Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Archives of rheumatology 2023 9 38 (2): 299-306. Rabia Miray K??la Ekinci, Özlem Anla?, Özge Öza |
Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA. The Turkish journal of pediatrics 2023 9 65 (4): 650-660. Yasemin Kendir-Demirkol, Laura A Jenny, Ferhat Demir, Betül Söze |
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island. Biomedicines 2023 9 11 (9): . Natalia Martínez-Pomar, Vanesa Cunill, Marina Segura-Guerrero, Elisabet Pol-Pol, Danilo Escobar Oblitas, Jaime Pons, Ignacio Ayestarán, Patricia C Pruneda, Inés Losada, Nuria Toledo-Pons, Mercedes García Gasalla, Joana Maria Ferrer Balagu |
Clinical presentation and genetic variants in patients with autoinflammatory diseases: results from the German GARROD registry. Rheumatology international 2023 9 . Norbert Blank, Ina Kötter, Marc Schmalzing, Jürgen Rech, Karoline Krause, Birgit Köhler, Dorothee Kaudewitz, Martin Nitschke, Christian S Haas, Hanns-Martin Lorenz, Martin Krusc |
Phase 1b dose-finding study of rituximab, lenalidomide, and ibrutinib (R2I) in patients with relapsed/refractory mantle cell lymphoma. Leukemia & lymphoma 2023 9 1-11. Andrew Ip, Alessandra Petrillo, Alexandra Della Pia, Geeny G Lee, Sarvarinder Gill, Tony Varughese, Joshua Zenreich, Martin Gutierrez, Jiayu Zhang, Jaeil Ahn, Vishnu Bharani, Ava S Nejad, Lauren Pascual, Tatyana A Feldman, Lori A Leslie, Andre H G |
Characteristics and course of patients with AA Amyloidosis: single center experience with 174 patients from Turkey. Rheumatology (Oxford, England) 2023 9 . Murat Bektas, Nevzat Koca, Emin Oguz, Selma Sari, Gizem Dagci, Burak Ince, Pelin Karaca Ozer, Besim Fazil Agargun, Yasemin Yalcinkaya, Bahar Artim-Esen, Lale Ocal, Murat Inanc, Ahmet G |
Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network. Rheumatology international 2023 9 . Fatma Gül Yurdakul, Hatice Bodur, Hasan Fatih Çay, Ülkü Uçar, Ya?ar Keskin, Betül Sarg?n, Gülcan Gürer, Ozan Volkan Yurdakul, Mustafa Çal??, Hülya Deveci, Y?ld?ray Ayd?n, Sami Hizmetli, Remzi Çevik, Ali Yavuz Karahan, ?ebnem Ataman, Mehmet Tuncay Duruöz, Hilal Ecesoy, Zafer Günendi, Murat Toprak, Nesrin ?en, Duygu Alt?nta?, Ahmet K?vanç Cengiz, Gökhan Ça?layan, Ali Nail Demir, Hüseyin Kaplan, Sertaç Ketenci, Meltem Alkan Meliko?lu, Mehmet Nayimo?lu, Kemal Nas, Banu Sar?fak?o?lu, ?lhan Sez |
Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever. Northern clinics of Istanbul 2023 9 10 (4): 451-457. Didem Erdem Gursoy, Halise Hande Gezer, Nuran Oz, Aygun Ozer, Sevtap Acer Kasman, Mehmet Tuncay Duru |
GABRA1-related disorders: from genetic to functional pathways. Annals of neurology 2023 8 . Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, Christina D Fenger, Damien Lederer, Kavitha Kothur, Katrina Fisk, Bruce Bennetts, Pascal Vrielynck, Delphine Delaby, Berten Ceulemans, Sarah Weckhuysen, Peter Sparber, Arjan Bouman, Simone Ardern-Holmes, Christopher Troedson, Domenica I Battaglia, Himanshu Goel, Timothy Feyma, Somayeh Bakhtiari, Linda Tjoa, Martin Boxill, Nina Demina, Olga Shchagina, Elena Dadali, Michael Kruer, Gaetano Cantalupo, Ilaria Contaldo, Tilman Polster, Bertrand Isidor, Stefania M Bova, Walid Fazeli, Leen Wouters, Maria J Miranda, Francesca Darra, Elisa Pede, Diana Le Duc, Rami Abou Jamra, Sébastien Küry, Jacopo Proietti, Niamh McSweeney, Elly Brokamp, Peter Ian Andrews, Marie Gouray Garcia, Mary Chebib, Rikke S Møller, Philip K Ahring, Elena Gardel |
Association between FGA gene polymorphisms and coronary artery lesion in Kawasaki disease. Frontiers in medicine 2023 8 10 1193303. Xingzhu Liu, Yanfei Chen, Yanfei Yang, Zhongjian Su, Feng Wang, Chenghao Zhanghuang, Yuqin Wu, Xing Zha |
Interferon-gamma gene diplotype (AA-rs2069716 / AG-rs2069727) may play an important role during secondary outcomes of severe dengue in Brazilian patients. Revista do Instituto de Medicina Tropical de Sao Paulo 2023 7 65 e43. Cristiane Campello Bresani-Salvi, Clarice Neuenschwander Lins de Morais, Heytor Victor Pereira da Costa Neco, Pablo Cantalice Santos Farias, André Filipe Pastor, Raul Emídio de Lima, Ulisses Ramos Montarroyos, Bartolomeu Acioli-Sant |
Association of HLA class II DR/DQ alleles in children and adolescents with rheumatic heart disease from a tertiary care centre in North India. Indian heart journal 2023 7 . Anbarasan A, Dinesh Kumar, Rakesh Deepak, Dheeraj Deo Bhatt, Lata Kumari, Praveen Arumugam, Kawaldeep Kaur, Likhith Kumar |
Gut microbiota alterations are associated with phenotype and genotype in familial Mediterranean fever. Rheumatology (Oxford, England) 2023 7 . Marion Delplanque, Nicolas Benech, Nathalie Rolhion, Cyriane Oeuvray, Marjolène Straube, Chloé Galbert, Loic Brot, Thomas Henry, Yvan Jamilloux, Léa Savey, Gilles Grateau, Harry Sokol, Sophie Georgin-Lavial |
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 |
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation. Clinical and experimental rheumatology 2023 5 . Mehmet Kocabey, Tufan Cankaya, Meral Torum Bayram, Ayfer Ulgenalp, Ahmet Okay Caglayan, Ozlem Giray Bozka |
Genetic variants of genes involved in thiopurine metabolism pathway are associated with 6-mercaptopurine toxicity in pediatric acute lymphoblastic leukemia patients from Ethiopia. Frontiers in pharmacology 2023 5 14 1159307. Awol Mekonnen Ali, Haileyesus Adam, Daniel Hailu, Ephrem Engidawork, Rawleigh Howe, Teferra Abula, Marieke J H Coen |
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisted of M694V and Implications for Colchicine-Resistant Disease. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2023 3 . Kisaoglu Hakan, Baba Ozge, Kalyoncu Mukadd |
Neither the African-centric S47 nor P72 variant of TP53 is associated with reduced risk of febrile malaria in a Malian cohort study. The Journal of infectious diseases 2023 3 . Bhardwaj Jyoti, Upadhye Aditi, Gaskin Erik L, Doumbo Safiatou, Kayentao Kassoum, Ongoiba Aissata, Traore Boubacar, Crompton Peter D, Tran Tuan |
IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature. Cureus 2023 3 15 (2): e34876. Yokoyama Tadafumi, Sakumura Naoto, Inoue Natsumi, Matsuda Yusuke, Wada Tai |
Co-occurrence of familial Mediterranean fever with systemic lupus erythematosus in South Asian population. Reumatologia clinica 2023 3 19 (3): 130-135. Farooq Muhammad Umar, Sohail Hasan, Mohsin Muhammad, Iqbal Raafe, Malik Jahanzeb, Ishaq Uz |
Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-? Axis in Patient with Recurrent Typhoid Fever. BioMed research international 2023 2 2023 1761283. Hassan Faaiz Ul, Aljeldah Mohammed M, Fozia Fozia, Hussain Mubbashir, Khan Taj Ali, Siraj Sami, Ahmad Ijaz, Qasim Muhammad, Khan Imran, Giesy John P, Aboul-Soud Mourad A |
The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort. Clinical rheumatology 2023 2 . Ça?layan ?engül, Mardino?lu Gizem, Yarar Murat Hakk?, Ulu Kadir, Co?kuner Taner, Yi?it Ramazan Emre, Baykal Gülcan Özomay, Türkmen ?eyma, Çakan Mustafa, Demir Ferhat, Sözeri Bet |
Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study. European journal of pediatrics 2023 2 . Bekis Bozkurt Hayrunnisa, Y?ld?r?m Sema, Ergüven Müfer |
The Genetic Variant TNFA (rs361525) Is Associated with Increased Susceptibility to Developing Dengue Symptoms. Viral immunology 2023 2 . Villanueva-Aguilar Mónica Edith, Rizo-de-la-Torre Lourdes Del Carmen, Granados-Muñiz María Del Pilar, Montoya-Fuentes Andrea, Montoya-Fuentes Héct |
Analysis of RAS gene mutations in adverse events during first induction chemotherapy in childhood acute lymphoblastic leukemia. Translational pediatrics 2023 2 12 (1): 56-67. Chen Tianping, Wei Nan, Lv Wenxiu, Qu Lijun, Liu Hongj |
Genetic Evidence Supporting Causal Roles of mTOR-Dependent Proteins in Rheumatic Fever: A Two-Sample Randomized Mendelian Study. Advances in therapy 2023 2 . Mu Yan-Fei, Wang Qian, Hu Jing-Xi, Wang Qi, Zhang Yao-Chen, Fan Ke-Yi, Han Zi-Yi, Zhang He-Yi, Cheng Ting, Zhao Rong, Song Shan, Qiao Jun, Zhang Sheng-Xiao, Wang Cai-Ho |
Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study. Mediterranean journal of rheumatology 2023 11 34 (3): 332-341. Oadi N Shrateh, Mariam Thalji, Afnan W M Jobran, Aml M Brakat, Abdelrahman M Attia, Fawzy M Abunej |
Associations of MEFV gene variants, IL-33, and sST2 with the risk of Henoch-Schönlein purpura in children. Heliyon 2024 4 10 (8): e29469. Yang Ruan, Longlong X |
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies. Epilepsy & behavior : E&B 2024 4 155 109762. Maria Luiza Benevides, Helena T de Moraes, Diana M M Granados, Luciana C Bonadia, Letícia Sauma, Maria Augusta Montenegro, Marilisa M Guerreiro, Íscia Lopes-Cendes, Ana Carolina Co |
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- Page last updated:Apr 29, 2024
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