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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 30, 2023. (Total: 221577Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Familial Mediterranean Fever and TNFRSF1A[original query]
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
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,
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
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
Arthritis care & research 2010 Sep 62 (9): 1294-8.
Marek-Yagel Dina, Berkun Yackov, Padeh Shai, Lidar Merav, Shinar Yael, Bar-Joseph Ifat, Reznik-Wolf Haike, Langevitz Pnina, Livneh Avi, Pras El
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
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
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
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
Proceedings of the National Academy of Sciences of the United States of America 2013 May 110 (20): 8134-9.
Kirino Yohei, Zhou Qing, Ishigatsubo Yoshiaki, Mizuki Nobuhisa, Tugal-Tutkun Ilknur, Seyahi Emire, Özyazgan Yilmaz, Ugurlu Serdal, Erer Burak, Abaci Neslihan, Ustek Duran, Meguro Akira, Ueda Atsuhisa, Takeno Mitsuhiro, Inoko Hidetoshi, Ombrello Michael J, Satorius Colleen L, Maskeri Baishali, Mullikin James C, Sun Hong-Wei, Gutierrez-Cruz Gustavo, Kim Yoonhee, Wilson Alexander F, Kastner Daniel L, Gül Ahmet, Remmers Elaine
Evidence of digenic inheritance in autoinflammation-associated genes.
Journal of genetics 2016 Dec 95 (4): 761-766.
Neocleous Vassos, Byrou Stefania, Toumba Meropi, Costi Constantina, Shammas Christos, Kyriakou Christina, Christophidou-Anastasiadou Violetta, Tanteles George A, Hadjipanayis Adamos, Phylactou Leonidas
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 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
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