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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2023. (Total: 223870Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Abdominal Pain and TNFRSF1A[original query]
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
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
Arthritis and rheumatism 2008 Jun 58 (6): 1823-32.
Gattorno M, Sormani M P, D'Osualdo A, Pelagatti M A, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martini
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
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
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
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,
The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up.
Seminars in arthritis and rheumatism 2014 Jun 43 (6): 818-23.
Cantarini Luca, Rigante Donato, Merlini Giampaolo, Vitale Antonio, Caso Francesco, Lucherini Orso Maria, Sfriso Paolo, Frediani Bruno, Punzi Leonardo, Galeazzi Mauro, Cimaz Rolando, Obici Lau
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
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
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