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Mefv Mutations In Systemic Jia
(BioMed Central, 2008)
Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease. On the ...
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause Of Neonatal Death, Explained By Tpit Gene Mutations
(Endocrine Soc, 2005)
Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of ...
Preliminary Evaluation of an Immunochromatographic Strip Test for Specific Treponema Pallidum Antibodies
(Amer Soc Microbiology, 2002)
We evaluated a prototype immunochromatographic strip (ICS) test for qualitative detection of Treponema pallidum antibodies in 353 sera from 157 patients. For sera from 43 syphilis patients, the ICSs were reactive, while ...
Mefv Mutations In Systemic Onset Juvenile Idiopathic Arthritis
(Oxford Univ Press, 2009)
Objectives. Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic
syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic ...