Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Syndrome and TNFRSF1A[original query] |
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| Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002 Jul 17 (7): 1212-7. Dodé Catherine, Hazenberg Bouke P C, Pêcheux Christophe, Cattan Daniel, Moulin Bruno, Barthélémy Anne, Gubler Marie-Claire, Delpech Marc, Grateau Gill |
| Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes and immunity 2004 Jun 5 (4): 289-93. Aganna E, Hawkins P N, Ozen S, Pettersson T, Bybee A, McKee S A, Lachmann H J, Karenko L, Ranki A, Bakkaloglu A, Besbas N, Topaloglu R, Hoffman H M, Hitman G A, Woo P, McDermott M |
| Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations. European journal of human genetics : EJHG 2005 Apr 13 (4): 513-5. Tchernitchko Dimitri, Chiminqgi Mihelaiti, Galactéros Frédéric, Préhu Claude, Segbena Yvon, Coulibaly Hamidou, Rebaya Nadia, Loric Sylva |
| Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. International journal of molecular medicine 2004 Nov 14 (5): 813-8. Horiuchi Takahiko, Tsukamoto Hiroshi, Mitoma Hiroki, Miyagawa Hiroshi, Tamimoto Yasuhiro, Yoshizawa Seiji, Harada Mine, Hayashi Kenshi, Hashimura Chinami, Oribe Motohiro, Okamura Seiic |
| Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford, England) 2006 Mar 45 (3): 269-73. Simon A, van der Meer J W M, Vesely R, Myrdal U, Yoshimura K, Duys P, Drenth J P H, |
| Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. Arthritis and rheumatism 2007 Aug 56 (8): 2774-83. Kümpfel Tania, Hoffmann Lisa-Ann, Rübsamen Heike, Pöllmann Walter, Feneberg Wolfgang, Hohlfeld Reinhard, Lohse Pet |
| Polymorphism A36G of the tumor necrosis factor receptor 1 gene is associated with PAI-1 levels in obese women. Thrombosis and haemostasis 2007 Jan 97 (1): 62-6. Mavri Alenka, Bastelica Delphine, Poggi Marjorie, Morange Pierre, Peiretti Franck, Verdier Monique, Juhan-Vague Irène, Alessi Marie-Christi |
| Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatology (Oxford, England) 2009 Jun . Lainka E, Neudorf U, Lohse P, Timmann C, Stojanov S, Huss K, Kries RV, Niehues T |
| The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis and rheumatism 2009 Nov 60 (11): 3476-84. Ferretti Massimo, Gattorno Marco, Chiocchetti Annalisa, Mesturini Riccardo, Orilieri Elisabetta, Bensi Thea, Sormani Maria Pia, Cappellano Giuseppe, Cerutti Elisa, Nicola Stefania, Biava Alessandra, Bardelli Claudio, Federici Silvia, Ceccherini Isabella, Baldi Maurizia, Santoro Claudio, Dianzani Irma, Martini Alberto, Dianzani Umber |
| Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. International journal of immunopathology and pharmacology 0 22 (4): 1051-8. Cantarini L, Lucherini O M, Cimaz R, Baldari C T, Bellisai F, Rossi Paccani S, Laghi Pasini F, Capecchi P L, Sebastiani G D, Galeazzi |
| TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina. Molecular biology reports 2012 Jan 39 (1): 117-21. Kauffman Marcelo A, Gonzalez-Morón Dolores, Garcea Orlando, Villa Andrés Mar |
| TNFRSF1A coding variants in multiple sclerosis. Journal of neuroimmunology 2011 Jun 235 (1-2): 110-2. Goris An, Fockaert Niels, Cosemans Leentje, Clysters Katleen, Nagels Guy, Boonen Steven, Thijs Vincent, Robberecht Wim, Dubois Bénédic |
| MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease. Clinical and experimental rheumatology 0 29 (4 Suppl 67): S24-7. Baruch Yoav, Dagan Efrat, Rosner Itzhak, Fiorilli Massimo, Gershoni-Baruch Ruth, Rozenbaum Micha |
| Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. International journal of immunopathology and pharmacology 0 24 (3): 695-702. Cantarini Luca, Iacoponi F, Lucherini O M, Obici L, Brizi M G, Cimaz R, Rigante D, Benucci M, Sebastiani G D, Brucato A, Sabadini L, Simonini G, Giani T, Laghi Pasini F, Baldari C T, Bellisai F, Valentini G, Bombardieri S, Paolazzi G, Galeazzi |
| Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis and rheumatism 2011 Apr 63 (4): 1141-50. Pelagatti M A, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, Calcagno G, Tommasini A, Bossi G, Sormani M P, Caroli F, Plebani A, Ceccherini I, Martini A, Gattorno |
| Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1ß production. The Journal of allergy and clinical immunology 2013 Jun 131 (6): 1635-43. Kolly Laeticia, Busso Nathalie, von Scheven-Gete Annette, Bagnoud Nathaliane, Moix Isabelle, Holzinger Dirk, Simon Gregoire, Ives Annette, Guarda Greta, So Alexander, Morris Michael A, Hofer Micha |
| Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. Clinical research in cardiology : official journal of the German Cardiac Society 2012 Feb . Cantarini L, Lucherini OM, Brucato A, Barone L, Cumetti D, Iacoponi F, Rigante D, Brambilla G, Penco S, Brizi MG, Patrosso MC, Valesini G, Frediani B, Galeazzi M, Cimaz R, Paolazzi G, Vitale A, Imazio M |
| The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Annals of the rheumatic diseases 2014 Dec 73 (12): 2160-7. Lachmann H J, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, Frenkel J, Anton J, Kone-Paut I, Cattalini M, Bader-Meunier B, Insalaco A, Hentgen V, Merino R, Modesto C, Toplak N, Berendes R, Ozen S, Cimaz R, Jansson A, Brogan P A, Hawkins P N, Ruperto N, Martini A, Woo P, Gattorno M, |
| MEFV Variants in Patients with PFAPA Syndrome in Japan. The open rheumatology journal 2013 7 22-5. Taniuchi Shoichiro, Nishikomori Ryuta, Iharada Anna, Tuji Shoji, Heike Toshio, Kaneko Kazuna |
| Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis. Pediatric rheumatology online journal 2013 11 (1): 14. Hinks Anne, Martin Paul, Thompson Susan D, Sudman Marc, Stock Carmel J, Thomson Wendy, Day Thomas G, Packham Jon, , , Ramanan Athimalaipet V, Donn Rachelle |
| TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q Variant. The Journal of rheumatology 2015 Aug 42 (8): 1534-5. Abdwani Reem, Abdalla Eiman, Al Abrawi Safiya, Al-Thihli Khal |
| Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence. Journal of Korean medical science 2016 Feb 31 (2): 196-201. Yang Ji Ae, Choi Ji Yong, Kang Eun Ha, Ha You-Jung, Lee Yun Jong, Song Yeong Wo |
| Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clinical and experimental rheumatology 2017 11 35 Suppl 108 (6): 75-81. Karacan ?lker, U?urlu Serdal, Tolun Asl?han, Tahir Turanl? Eda, Ozdogan Hu |
| Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome. Rheumatology (Oxford, England) 2019 Nov . Zhao Mengzhu, Luo Yi, Wu Di, Yang Yunjiao, Sun Yang, Wang Rongrong, Shen M |
| Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
| Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
| 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 |
| Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51. Rheumatology (Oxford, England) 2023 11 . Alice Burleigh, Ebun Omoyinmi, Charalampia Papadopoulou, Eslam Al-Abadi, Ying Hong, Fiona Price-Kuehne, Elena Moraitis, Hannah Titheradge, Francesca Montesi, Diane Xu, Despina Eleftheriou, Paul Brog |
| Genetic variants in ATP2B2 as risk factors for mortality in patients unrelated but not associated with families with severe COVID-19. Heliyon 2024 4 10 (8): e29493. María Fernanda López-Bielma, Ramcés Falfán-Valencia, Aurelio Fierro-Piña, Edgar Abarca-Rojano, Elizabeth Córdoba-Lanus, Ingrid Fricke-Galindo, Priscila Romero-Villaseñor, Ivette Buendía-Roldán, Leslie Chávez-Galán, María Esther Jaime-Capetillo, Gloria Pérez-Rub |
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