These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases. Kümpfel T; Hoffmann LA; Pellkofer H; Pöllmann W; Feneberg W; Hohlfeld R; Lohse P Neurology; 2008 Nov; 71(22):1812-20. PubMed ID: 19029521 [TBL] [Abstract][Full Text] [Related]
3. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Stojanov S; Dejaco C; Lohse P; Huss K; Duftner C; Belohradsky BH; Herold M; Schirmer M Ann Rheum Dis; 2008 Sep; 67(9):1292-8. PubMed ID: 18180277 [TBL] [Abstract][Full Text] [Related]
4. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Stojanov S; Lohse P; Lohse P; Hoffmann F; Renner ED; Zellerer S; Kéry A; Shin YS; Haas D; Hoffmann GF; Belohradsky BH Arthritis Rheum; 2004 Jun; 50(6):1951-8. PubMed ID: 15188372 [TBL] [Abstract][Full Text] [Related]
5. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Ida H; Kawasaki E; Miyashita T; Tanaka F; Kamachi M; Izumi Y; Huang M; Tamai M; Origuchi T; Kawakami A; Migita K; Motomura M; Yoshimura T; Eguchi K Rheumatology (Oxford); 2004 Oct; 43(10):1292-9. PubMed ID: 15280569 [TBL] [Abstract][Full Text] [Related]
6. Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. Haas SL; Lohse P; Schmitt WH; Hildenbrand R; Karaorman M; Singer MV; Böcker U Gastroenterology; 2006 Jan; 130(1):172-8. PubMed ID: 16401480 [TBL] [Abstract][Full Text] [Related]
7. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Aganna E; Zeharia A; Hitman GA; Basel-Vanagaite L; Allotey RA; Booth DR; Hawkins PN; Thacker C; Syndercombe-Court D; McDermott MF Arthritis Rheum; 2002 Jan; 46(1):245-9. PubMed ID: 11817598 [TBL] [Abstract][Full Text] [Related]